Teaching block 2 [1] Flashcards

(119 cards)

1
Q

genes continued

Mendelian genetics

A
  • Named after Gregor Mendel (1822-1884) - An Austrian monk
  • a biological theory of inheritance that describes how traits are passed down through generations
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2
Q

What did Mendel do?

A

Mendel carried out breeding experiments on the garden pea, because:

  1. many easily recognisable, distict forms or varieties (34 varieties)
  2. The flowers are normally self fertilised but it is possible to remove the stamens from a flower, before they are mature + to pollinate the stigma with pollen from a different plant
  3. the plant resulting from cross fertilisation are fully viable + fertile
  4. The plants are easy to cultivate [prepare]
  5. Has a reasonably short life cycle (1 year)
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3
Q

Genes v alleles

Genotype v phenotype

A

Genes - a specific sequence of DNA bases that codes for a particular protein [represented by pairs of latters [Ff]

Allele - an allele is one of these pairs of letters [F + f = alleles] allele = a different version of a gene

Genotype - A description of the genes present in an organisms eg AA, Aa, aa

Phenotype - The acc characteristic resulting from the genotype [eg: eye colour]

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4
Q

Dominant v Recessive alleles

Difference between TT / tt + Tt

Homozygous? Heterozygous?

A

Dominant - Capital [T] = will always be expressed

Recessive - lowercase [t] = will only be expressed if they inherit two copies of the allele

TT or tt = homozygous dominant or homozygous recessive [2 dominant or 2 recessive alleles]

Tt = heterozygous [ a dominant + a recessive allele]

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5
Q

Monohybrid cross

A
  • Involve a single characteristic controlled by a single gene with 2 alleles
  • need to know ratios + percentages of F1 + F2 phenoypes + genotypes based on drawed cross
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6
Q

Pleiotropism?
EG?

A

Pleiotropism - where a gene has more than one phenotypic effect (that appear to be unrelated)

  • a single gene influencing multiple phenotypic traits

EG: cystic fibrosis - caused by 1 recessive gene

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7
Q

Cystic fibrosis

A

Cystic fibrosis gene causes thicker than normal mucus.

2 outcomes of this…

  1. Thick mucus in LUNGS –> blocks bronchioles + alveoli –> secondary lung infections
  2. Thick mucus in PANCREAS –> blocks exit for digestive enzyme….either..
  • unable to digest food in duodenum
  • self digestion of pancreas –> destruction of islets of langerhans –> stops insulin production –> diabetes mellitus (diabetes)

[ Islets of langerhans = endocrine cells in the pancreas that play a crucial role in blood sugar regulation by secreting hormones ]

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8
Q

dihybrid crosses

A
  • This is where you have genes for two characteristics
  • examines the inheritance of two different traits, each controlled by a separate gene, in a single breeding experiment
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9
Q
  1. why can a man not pass on a sex-linked gene to his son?
  2. Can blue eyes parents have brown eyed child?
A
  • Most sex-linked genes at located on the X chromosome
  • if chid is a son = man will pass his ‘Y’ chromosome not his ‘X’ chromosome
  • = the man’s X chromosome containing the sex-linked gene will not be passed on
  • more likely to inherot this gene from mum instead
  • No, as blue yes is a recessive trait = both parentd blue eyes = bb + bb = no B allele for brown eyes present to pass down = as B is dominant for brown eyes
  • Bb / BB = brown eyes
  • bb = blue eyes
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10
Q

Red-green colour blindness.

A
  • Difficulty distinguishing between red + green – is a recessive sex linked condition like haemophilia.
  • Affects 8% of males + 0.7% of females.
  • Recessive sex linked conditions are less common in women than men, because women need to inherit the condition from the father and the mother whereas a man only needs to inherit from his mother.
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11
Q

Blood groups

What are the 4 blood groups are their potential genotypes

A

Blood group –> Genotype

  • A –> Hb^A Hb^A or Hb^A Hb^O
  • B –> Hb^B Hb^B or Hb^B Hb^O
  • AB –> Hb^A Hb^B
  • O –> Hb^O Hb^O

The alleles HbA + HbB are both dominant to HbO
= HbO is recessive

HbA + HbB are co-dominant = “equally dominant”

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12
Q

Sickle cell anaemia

A

Hb^s Hb^s [homo] - person with this genotype has sickle cell anaemia.

  • Painful + fatal
  • Haemoglobin solubility is low when deoxygenated
  • Haemoglobin is sticky + rigid = stick togethe = form crystals
  • = Crystals distort RBC into a sickle shape
  • RBC at risk of mechanical damage + slows/blocks blood flow

Hb^A Hb^s [hetero] - Sickle cell trait – at least half the haemoglobin is normal = cariers

  • Only some red blood cells distort.
  • Gives some protection against malaria - blood disease
  • Natural selection increases the frequency of sickle cell allele in high malaria regions as people with sickle cell are more likely to survive against malaria
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13
Q

Why does Hb^A Hb^s give some protection from malaria?

A

In people with Hbᴬ Hbˢ (sickle cell trait):

  • Their rRBC are mostly normal but can change shape slightly under stress.
  • This makes it harder for the malaria parasite to survive + grow inside the RBC
  • = The immune system can then destroy the infected cells faster.
  • get less severe malaria infections compared to people with normal Hbᴬ Hbᴬ.

people with Hbˢ Hbˢ (sickle cell anaemia) do get some protection too…BUT their disease is so serious that it doesn’t help overall – they suffer from sickle cell anaemia’s complications.

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14
Q

Artificial selection / selective breeding

Natural selection

A

Artificial selection / selective breeding -
the process where humans choose organisms with desired traits and breed them to enhance the expression of those traits in future generations

Natural selection - process where organisms with traits better suited to their environment tend to survive and reproduce more successfully, passing on those advantageous traits to their offspring.

  • This leads to a gradual change in the characteristics of a population over time = evolution
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15
Q

DNA

[Deoxyribonucleic Acid]

What is it and what does it do

A
  • Double stranded molecule twisted into a helical shape = double helix
  • DNA - heritable material found in all cells
  • carries the geneic info needed for growth, development, + functioning of all living organisms
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16
Q

History of DNA

A

1869 Nucleic acid discovered - Johann Friedrich Miescher

1919 Molecular structure of DNA (adenine, guanine, cytosine, thymine) - Phoebus Levene

1944 found DNA carried genetic info - Oswald Avery, Colin Macleod + Maclyn McCarty

1950 defines base pairing A+T C+G - Erwin Chargaff

1953 structure of DNA discovered - James Watson, Francis Crick + Roalind Franklin

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17
Q

The basic structure of DNA:

A
  • DNA is a polymer made of nucleotides
  • each strand of DNA has a “backbone” of phosphate-sugar-phosphate-sugar etc…
  • the backbone has a 5’ end (with a free phosphate) + a 3’ (with a free OH group)
  • The 2 strands of the DNA double helix run in opposite directions = they’re antiparallel.
  • 1 strand runs in the 5’ to 3’ direction, while the complementary strand runs in the 3’ to 5’ direction
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18
Q

What is a nucleotide made of?

What’s their roles in the structure of DNA?

A

building block of DNA

3 components:

  • A phosphate group - forms the backbone of DNA + links to the sugar of the adjacent nucleotide
  • A pentose deoxyribose sugar - acts asstructural framework + connects to the phosphate group + nirogenous base
  • Nitrogenous base (1 of the 4) - determines the genetic code through base pairing (ATCG) - these bases store genetic info + form hydrogen bonds with complimentary bases
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19
Q

What happens to a free nucleotide when incorporated into DNA

A
  • Free nucleotide (unincorporated into DNA strand) exists in a triphosphate form = a chain of 3 phosphates
  • (sugar + base + 3 phosphates)
  • When incorporated into DNA = it loses 2 of these phosphate groups = only 1 phosphate is incorporated into a strand of DNA
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20
Q

How is the pentose sugar in DNA different from ribose

What does this do for DNA

A
  • Pentose sugar in DNA - modifies form of the 5-carbon sigar ribose (RNA)
  • DIfference: the -OH group on the 2’ carbon of ribose is replaced by a H atom in pentose sugar
  • hence the name ‘2’deoxyribose’ ( without oxygen)
  • The absence of the 2’hydroxyl group makes DNA more chemically stable compared to RNA
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21
Q

sugar-phosphate backbone

How is a nucleotide added to a growing DNA strand during DNA synthesis?

A
  1. Incoming nucleotide triphosphate (3 phosphates) alligns with existing DNA strand
  2. The 3’-OH group of last nucleotide in existing strand reacts with the 5’ phosphate group of the incoming nucleotide
  3. = 2 phosphate groups are released from the nucleotide triphosphate = leaving behind a single phosphate
  4. A phosphodiester bond forms between the 3’-OH group of the existing nucleotide’s sugar + the remaining phosphate attached to the 5’ carbon of the incoming nucleotide’s sugar.
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22
Q

whats the 5’ end and 3’ end

A
  • 5’ end: the end of the strand where the phosphate group is attached to the 5’ carbon of the sugar
  • 3’ end: the end of the strand where the hydroxyl group is attached to the 3’ carbon of the sugar
  • One strand runs in the 5’ to 3’ direction: strand begins at the top with the first phosphate connected to the sugar molecule’s 5th carbon + ends where the next phosphate would go, with a free end at the sugar’s 3rd carbon
  • complementary strand runs in the 3’ to 5’ direction: strand begins at the top with a free end at the sugar’s 3rd carbon and the phosphates connect to the sugars’ fifth carbons all the way down + it ends at the bottom with a phosphate
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23
Q

The sugar-phosphate backbone is a critical structural feature of DNA providing:

A
  1. Stability
  • The sugar-phosphate backbone forms the outer framework of the DNA double helix.
  1. Protection of genetic information encoded by the nitrogenous bases
  • Backbone shields the nitrogenous bases from chemical/enzymatic damage.
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24
Q

The 4 Nitrogenous Bases in DNA

Pyrimidine v Purine structured bases

A

Adenine (A), Thymine (T), Guanine (G), Cytosine (C).

  • These bases pair up to form the rings of the DNA double helix [A+T C+G]

Pyrimidines: Single carbon-nitrogen ring [C + T]
Purines: TWO carbon-nitrogen rings [A + G]

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How are the Nitrogenous Bases connected in DNA
- The 2 DNA strands are connected via hydrogen bonds between the nitrogen bases of each strand (double-helix). - Double helix structure relies on the pairing of 1 pyrimidine with 1 purine, ensuring that the width of the helix remains constant - **purine A** pairs with **pyrimidine T** with **2 H** bonds - **purine G** pairs with the **pyrimidine C** with **3 H** bonds specific pairing due to complimentary shape of bases + ability to form H bonds
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The genetic code of DNA - determines how sequences of nucleotide bases correspond to specific amino acids 1. Triplet Code? 2. Universal?
1. **Triplet code**: - Read in groups of three nucleotides, called codons. - Each codon specifies a single amino acid. 2. **Universal**: - The genetic code is almost universal across all organisms - The same codon specifies the same amino acid in most living beings. - EG in both humans + bacteria, AUG codes for methionine
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3. Degenerate? 4. Non-overlapping? 5. Start + stop codons?
3. **Degenerate**: - The genetic code is degenerate, * Multiple codons can code for the same amino acid. * EGGCU, GCC, GCA + GCG all code for the amino acid alanine 4. **Non-Overlapping**: - Codons are read in a continuous, non-overlapping manner - Each nucleotide is part of only one codon 5. **Start and Stop Codons**: - The codon *AUG* = start codon = signalling beginning of protein synthesis - 3 stop codons - *UAA, UAG, UGA* = signal end of protein synthesis
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Codon?
- A **codon** = Each sequence of 3 bases ( a triplet) = codes for 1 a specific amino acid There are 64 possible combinations: * 61 represent amino acids * 3 represent stop signal 20 amino acids make up the proteins in human body
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# DNA replication What is DNA replication? Why is it important?
- process where DNA produces an **exact copy of itself** - Genetic info is passed from parent to daughter cells - Basis for biological inheritance, ensuring genetic continuity - The parental DNA strand serves as a template for the synthesis of daughter nucleic acid molecules -` Results in 2 identical DNA molecules, each containing 1 parental strand + 1 newly synthesized strand` - (= **semi conservative**). **Important**: - essential for growth, reproduction + inheritance of geneic traits. - Ensures every new cell gets a complete, accurate copy of the organism's genome - innacurate copying of genetic info = mutations =diseases (eg colon+breast cancer linked to mutations in proofreading + errors in repair enzymes of replication)
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5 Enzymes involved in DNA replication?
1. Helicase 2. Binding Proteins 3. Primase 4. Polymerase 5. Ligase
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DNA replication summary:
- Helicase unzips + unwinds the DNA molecule - DNA polymerase creates a new complementary strand of DNA on each of the originals halves that were separated by helicase - New nucleotides are added through complementary base pairing: A pairs with T, and C with G - Ligase repairs gaps in the sugar-phosphate backbone between Okazaki fragments - DNA replication is semi-conservative because each daughter molecule contains one strand from the parent molecule and one new complementary strand
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# Enzymes involved in DNA replication 1. Helicase
* **Role**: Unzips the DNA double helix * **Function**: Breaks the hydrogen bonds between complementary base pairs separating the 2 strands + forming a replication fork * **Importance**: Creates single-stranded DNA templates for replication
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2. DNA Binding Proteins
* **Role**: Stabilises the unwound DNA strands * **Function**: Binds to single-stranded DNA to prevent it from re-annealing (re forming hydrogen bonds) or degrading. * **Importance**: Ensures the DNA remains open + accessible for replication machinery.
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3. Primase
* **Role**: Synthesises DNA primers * **Function**: creates short DNA primers on the DNA template *to provide a starting point for DNA polymerase* * **Importance**: DNA polymerase can only add nucleotides to an existing strand; primers act as a foundation for this process.
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4. DNA Polymerase
* **Role**: Synthesises new DNA strands * **Function**: Adds complementary nucleotides from the 5’ to the 3' end of the DNA primer + Performs proofreading to correct errors during replication. * **Importance**: Responsible for creating the new daughter DNA strand, ensuring it is complementary to the parental strand.
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DNA Polymerase - **Okazaki Fragments**?
- Polymerase can only synthesize new DNA in one direction on the template strand = the 5' to 3' direction - * One set of DNA being replicated in one long strand (the **leading strand**) [5'-3'] * One replicated in small chunks called Okazaki fragments (the **lagging strand**) [3'-5'] **Okazaki Fragments** = short fragments of DNA synthesized on the lagging strand
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5. Ligase
* **Role**: Joins DNA fragments * **Function**: Seals the gaps between Okazaki fragments on the lagging strand by *forming phosphodiester bonds* (fuses sugar-phosphate backbone). * **Importance**: Finalises the DNA molecule, ensuring the strands are continuous + complete.
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# Protein synthesis DNA transcription [ DNA → RNA ]
-Transcription takes place in the nucleus - DNA is used as a template to make a molecule of messenger RNA (mRNA) ``` Process of transcription 3 stages: 1. Initiation 2. Elongation 3. Termination ```
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1. Initiation which DNA strand is used as a template during transcription?
- Transcription begins when the enzyme **RNA polymerase** binds to a region of a gene called the **promoter sequence** * This signals the DNA to unwind [dNA helicase breaks H bonds] so the enzyme can “read” the bases of DNA ``` -strand used as template = template/antisense strand -The sequence of bases on the opposite strand of DNA = non-coding / sense strand ```
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2. Elongation
- Once the DNA has opened + RNA polymerase has attached = **RNA polymerase** moves along the DNA = **adding RNA nucleotides** to the growing mRNA strand. * The template strand of DNA is used as to create mRNA through complementary base pairing - chain, which grows from 5’ to 3’. - RNA transcription has the same information as a non-template strand of DNA by copying the information, but it consists of the base **uracil** (U) instead of thymine (T)
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3. Termination
- Once RNA polymerase reaches terminator = signals the RNA polymer to stop + release from DNA - the mRNA strand is complete + detaches from DNA (the 2 DNA strands then recoil + form double helix again) - pre-mRNA released * The result is a strand of mRNA that is nearly identical to the coding strand DNA – only difference = DNA uses base thymine + mRNA uses uracil in the place of thymine
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why does pre-mRNA go through more processing before it leaves the nucleus ?
- In eukaryotes, the new mRNA is not yet ready for translation = called pre-mRNA + must go through more processing before it leaves the nucleus as mature mRNA - Non-coding regions of DNA = **introns** = regions that don't code for the protein. The remaining mRNA consists only of regions called **exons** = do code for the protein. - **Splicing** removes introns from mRNA + then leaves nucleus
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# DNA translation translation
- The molecule of mRNA that leaves the nucleus then travels to a ribosome in the cytoplasm, where translation occurs RNA → Protein - Activation energy from ATP used to combine tRNA with amino acid molecules (20 types of tRNA) - The genetic code within the mRNA is “decoded” to build a protein that contains a specific series of amino acids
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3 stages of of DNA translation?
The process of DNA Translation is completed in three stages: 1. Initiation 2. Elongation 3. Termination
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1. Initiation
- For translation to begin, the start codon (AUG) must be recognised - AUG is specific to the amino acid methionine - At the 5’ cap of mRNA, the small subunit of the ribosome binds - Subsequently, the larger subunit binds to complete the initiation complex
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2. Elongation
- The ribosome has two tRNA binding sites: 1. P site which holds the peptide chain 2. A site which accepts the tRNA - Methionine moves from the P site to the A site to bond to a new amino acid there = starting the growth of the peptide. - tRNA molecule in the P site no longer has an attached amino acid = leaves ribosome via the E site - The ribosome translocates along the mRNA molecule to next codon - The growing peptide lies at the P site freeing the A site for the binding of the next aminoacyl-tRNA - The cycle continues
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P site? A site? E site?
1. **P Site** (Peptidyl Site) - Holds the tRNA carrying the growing polypeptide chain. - This is where the peptide bond forms between the amino acids - The first tRNA carrying methionine (AUG start codon) always starts in the P site. 2. **A Site** (Aminoacyl Site) - Entry site for the next tRNA carrying an amino acid. - The tRNA in this site matches its anticodon to the mRNA codon. - The ribosome then transfers the growing peptide chain from the P site tRNA to the new amino acid in the A site. 3. **E Site** (Exit Site) - Where the empty tRNA exits the ribosome after it has passed on the polypeptide
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3. Termination
- One of the three stop codons enters the A site [UAA, UAG, UGA] - No tRNA molecules bind to these codons, so the peptide + tRNA in the P site become hydrolysed = releasing the polypeptide into the cytoplasm - The small + large subunits of the ribosome then dissociate, ready for the next round of translation
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Histology - study of the microscopic examination of **tissue** - What is a tissue?
**Tissue** - A group of cells that are similar in structure + perform a specific function - Organized into categories based on structural + functional similarities - Tissue types work together to contribute to the overall health + maintenance of the human body
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What are the 4 types of tissues?
1. **Epithelial** - covering or lining tissue = form a protective barrier around organs + can also be involved in secretion 2. **Connective** - responsible for connecting, supporting + binding other tissues + organs together - can form many diverse types + roles depending on the contents of the surrounding matrix + the cells within 3. **Muscle** - are responsible for movement 4. **Nervous** - are responsible for transmitting signals - Each of these tissue types can differ based on the requirements of the organ they are part of
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# **Tissues -Epithelial tissues** [2 types: surface or glandular] Epithelial tissues **characteristics**?
* Numerous – continuous rate of cell division * In close apposition to each other – little space between cells * Tightly held together by junctions * Avascular – no blood vessels between cells
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Epithelial Tissue - Location
* Covers internal + external surfaces of your body * Found in organs * Lines body cavities + hollow organs * Major tissue in glands * Structures + functions depending on where it is in the body
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Epithelial Tissue - Examples
* The outer layer of your skin (epidermis) * The lining of your intestines * The lining of your respiratory tract * The lining of your abdominal cavity * Your sweat glands
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What are the functions of Epithelial Tissue?
1. Protection 2. Absorption 3. Secretion 4. Filtration 5. Sensory 6. Excretion
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1. Protection 2. Absorption 3. Secretion
1. **Protection** - protect several aspects on or within the body - EG, the skin- protects the tissues deeper in your body, such as blood vessels, muscle + internal organs 2. **Absorption** - allow the absorption of substances - EG the internal epithelial lining of your intestines- absorbs nutrients from the food you eat 3. **Secretion** - EG the glandular epithelium- secrete (release) enzymes, hormones + fluids
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4. Filtration 5. Sensory 6. Excretion
4. **Filtration** - - The epithelium of your respiratory tract filters out dirt + particles + cleans the air that you breathe in - EG the epithelial tissue in your kidneys filters your blood 5. **Sensory** - nerve endings that are embedded in epithelial tissue allow the body to receive outside sensory stimuli * EG the stereocilia on the surface of the epithelial tissue in the ear essential for hearing + balance * EG taste buds are embedded in the epithelium of the tongue 6. **Excretion** - removal of waste from the body * EG the epithelial tissue in the kidneys excrete waste * EG the epithelial tissue in sweat glands excrete sweat
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Structure of Epithelial tissues
- **Simple tissue**: has only 1 layer of cells that are in direct contact with the basement membrane [squamous/pavement, columnar, ciliated, glandular] - **Stratified tissue**: has many layers stacked on top of each other [stratified, glandular, cuboidal] - both have nucleus, cytoplasm, basement membrane, free surface (aka apical surface = surface facing external environment)
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**Squamous** epithelial cells (/pavement)
- Squamous epithelial cells are **flat** + sheet-like in appearance - Line surfaces that require a **smooth flow** of fluid (blood vessels) - Line very **thin surfaces** for molecules to pass through (lung air sacs) *EG* - Inner lining of Alveoli in the lungs, glomerular capsule in the kidneys, blood vessels, lymphatic vessels, the heart - thin = speed up gas exchange in the lungs | EG given in class: Alveoli in lungs
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Simple **Cuboidal** epithelial cells
* Simple cuboidal epithelial cells are **cube**like in appearance = have equal width, height + depth *EG* - Inner lining of some kidney tubules + ducts * Secretory function - eg in the thyroid * Absorptive function - Collecting ducts of the kidney]
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Simple **Columnar**
* **Column**-like appearance - they are **taller** than they are wide * Found in places that secrete mucus (stomach) * Often specialised for absorption - usually has apical **cilia** or **microvilli** * can be **ciliated** - respiratory system EG * Inner lining of the majority of the digestive tract * Inner lining of ducts * Lower respiratory tract * Female reproductive system | EG given in class: Intestines
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**Glandular** Epithelia
* Epithelial tissue involved in the production + release of **secretory products** [sweat, Saliva, Breast milk, Digestive enzymes, Hormones] * Arranged into **glands** * Glands can be classified as exocrine or endocrine depending on presence / absence of ducts **Endocrine** - internal secretion - no ducts - Release secretory products, hormones, into nearby blood vessels = to travel to other parts of body - Pituitary gland, Thyroid gland, Adrenal glands **Exocrine** - external secretion - glands with ducts - Release secretory products into a duct which opens into a specific part of the body (eg skin, stomach, respiratory tract) - Sweat glands, Salivary glands, Lacrimal (tear) glands
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Stratified
* Consist of **several layer** of cells * One layer is in direct contact with the basement membrane * One layer of cells has the apical surface exposed to the lumen of the organ / the external environment * Have a **protective role** ...The extent of friction / abrasion often determines number of layers of cells *EG* * outer skin layer - epidermis: Protection against microorganisms + water loss
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# Biotechnology + genetic engineering Traditional Biotechnologies
- selective breeding of crops + animals - Artificial selection - Use of microorganisms for food production + preservation (eg cheese,bread beer) | these techniques have been around for thousands of yrs
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Restriction Enzymes?
* Restriction enzymes = "molecular scissors" * = they **cut DNA at specific points** * More accurate name = **restriction endonuclease** * Restriction enzymes are produced by *bacteria*. * They **cut DNA at a specific base sequence** = **recognition site**
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TARGET SITES OF SOME RESTRICTION ENZYMES
**Enzyme** > **Bacterial Origin** > **Recognition Site** EcoRI > E. coli > G↓AATTC _ CTTAA↑G HindIII > H. influenzae > A↓AGCTT _ TTCGA↑A BamHI > B. amyloliquefaciens > G↓GATCC _ CCTAG↑G | (Arrows (↓ + ↑) indicate where the enzyme cuts the DNA strand.)
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Sticky ends + restriction enzymes
- Restriction enzymes make staggered cuts in the DNA called sticky ends - Sticky ends combine with complimentary sticky ends so different pieces of DNA can be joined / spliced - DNA ligase is used to join the sticky ends of 2 pieces of DNA | Sticky ends = single strands of DNA that overhang from the other side
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RECOMBINANT DNA TECHNOLOGY - What is it used for? - How is it done?
- EG isolating useful genes (eg produce insulin & growth hormone) + place the gene into another organism - Transfer gene into animals, so that they produce special proteins in their milk. [ **Involves the transfer of fragments of DNA from 1 organism/species into another organism/species = becomes a genetically modified organism (GMO) = contains the recombinant DNA**] How? 1. Isolate gene from human cell 2. Use restriction enzymes to cut DNA on either side of useful gene 3. Isolate a plasmid from a bacterial cell—cut it with same restriction enzyme 4. Splice human gene into plasmid using DNA ligase 5. Treat bacterium so it takes up recombinant plasmid 6. Bacterium multiplies & product of gene can be used
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Gene therapy? Methods of Gene therapy?
A genetic engineering technique that treats diseases by introducing a functional gene into cells that have a faulty gene EG Treating genetic diseases such as cystic fibrosis. METHODS OF GENE THERAPY: - Normal allele inserted into genome - Normal allele swapped with a faulty allele - Faulty allele can be repaired - Degree to which an allele can be turned on/off can be changed
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HOW ARE GENES INTRODUCED?
- Insert gene into a **virus** + use virus to insert the gene into human cells, eg herpes simplex virus. - **Liposomes** – non-virus – this is a lipid sphere that blends with cell membrane & drops allele into the cell
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**Monarch Butterflies** (Danaus plexippus)
- monarch butterfly can be found in very, very large numbers - the monarch butterfly is migratory, flying huge distances every year - Monarch butterflies have larvae or caterpillars that feed on milkweed plants - there are a lot of different species of milkweed, but the genus is Asclepias.
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Monarch Butterflies debate with GLYPHOSPHATE RESISTANCE | [when weeds no longer respond to the herbicide glyphosate]
* - Bt + the Monarch Butterfly - Bt = Bacillus thuringiensis [biological pesticide bacteria] - Population west of Rocky Mountain has declined > 50% since 1997 - Population east of Rocky Mountain has declined by 90% since 1995 - One billion monarchs have vanished since 1990 - Linked to herbicide use in herbicide-resistant GM corn + soybean which now constitute 89% & 94% of these crops in USA. Herbicide kills the milkweed (glyphosphate resistant GM corn). - Loss of overwintering habitat - Larva eating pollen that contains the Bt gene → toxic | all genetic reseach has potenial for abuse=should think abt consuquences
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``` Glyphosate [herbicide] used in farming = kill weeds in crop fields - Farmers grow genetically modified (GM) crops like corn + soybeans that R resistant to glyphosate = can spray glyphosate on their fields to kill weeds without harming their crops ``` **ENVIRONMENTAL / NAURE DEBATE**: - Milkweed naturally around farms...when farmers spray glyphosate to kill weeds = milkweed gets destroyed too. - No milkweed = Monarch caterpillars have nowhere to grow = fewer butterflies. - =Glyphosate-resistant crops lead to more glyphosate use = leads to less milkweed = causes declining Monarch butterfly populations - Glyphosate use is bad for monarchs = We should protect milkweed habitats + reduce chemical use **AGRICULTURE INDUSTRY DEBATE**: - GM crops help produce more food efficiently - There’s no strong direct proof that glyphosate alone is the main cause of monarch decline (climate change + habitat loss might also play roles)
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# **Tissues - Connective tissue** Collagen? Elastin?
**Collagen** - protein, non-stretchy, white fibres - protein that makes up connective tissue - Provides structural support + tensile strength to tissues - =Prevents tissues from tearing or separating -Found in tendons, ligaments, and bones **Elastin** - Protein, stretchy, yellow fibres - Provides elasticity to tissues - =Allows tissues to stretch + recoil without damage - Found in the lungs, urinary bladder + skin
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collagen tissue? elastic tissue?
**Collagen tissue** - white fibrous tissue - Type of connective tissues that contain a high amount of collagen - such as tendons, ligaments, and cartilage. - Tissue that connects other tissues, such as skin, muscles, tendons, and cartilage + contains collagen as a major component - Collagen in glycoprotein matrix - EG: Tendons -mostly made of white fibrous tissue + connect muscles to bones + rely on strong collagen fiber **Elastic tissue** - yellow elastic tissues + elastin + contain glycoprotein matrix - Made up of collagen and elastin fibers - Provides elasticity + mechanical strength to tissues - Found in the skin, lungs + urinary bladder - In structures that need to return to original shape after stretching: elastic ligaments, skin, blood vessel walls + lung tissue. - EG: some ligaments (like ligamentum nuchae [neck] + flavum [spine]) are elastic, but most are collagen-based
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Areolar tissue Adipose tissue [+ Brown adipose tissue?]
**areolar tissue** - loose connective tissue that provides support + cushioning to various organs + tissues in the body **adipose tissue** - large tissues full of fat - energy store + thermal insulation to maintain body temp + acts as cushioning to protect organs - (full of adipocytes = fat cells) - Found under the skin, around organs (eg kidneys, heart) + In the bone marrow + breasts. **Brown Adipose Tissue** (brown fat) = type of adipose fat tissue invovled in heat production (thermogenesis) **White Adipose Tissue** mainly stores energy
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= Draw areolar tissue | need to know drawing
BE ABLE TO DRAW IT Areolar tissue is wrapped around organs especially where blood vessels + nerves enter the organs - contains macrophage (phagocytosis + defence) - Fat cells - energy store + insulation - Elastin - strong + stretchy - Mast cells - secrete matrix - Matrix - Collagen - strong, non-stretchy - Fibroblast - secretes fibres
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Tendons Ligaments
**Tendons** - muscle to bone (archilles tendons - connects the calf muscles to the heel bone) tibula/ fibula **Ligaments** - bone to bone (around knee)
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# **Tissues - Skeletal Tissues** Major bones in skeleton | need to know structure drawing
**Skull** – Protects the brain **Clavicle** (collarbone) – Connects the arm to the body **Scapula** (shoulder blade) – Important for shoulder movement **Sternum** (breastbone) – Protects the heart + lungs **Ribs** – Protect the thoracic organs **Humerus** – Upper arm bone **Radius** – One of the forearm bones (thumb side) **Ulna** – The other forearm bone (pinky side) **Pelvis** – Supports the lower body and protects organs **Femur** – Thigh bone, the longest and strongest bone **Patella** (kneecap) – Protects the knee joint **Tibia** – The larger shin bone **Fibula** – The smaller shin bone **Carpals** – Wrist bones **Metacarpals** – Hand bones **Phalanges** – Finger and toe bones **Tarsals** – Ankle bones **Metatarsals** – Foot bones
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Vertebral Column What are the 5 types of vertebrae? How many of each are there? | need to know structure drawing
- **7 cervical vertebrae** - **12 dorsal** or **thoracic vertebrae** - **5 lumbar vertebrae** - sacrum of **5 sacral vertebrae** - coccyx of **4 coccygeal vertebrae** ``` on opposite side of these labelles vertebraes on diagram of vertebral column there are... cervical curvature, thoracic curvature, lumbar curvature, sacral curvature ```
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How bone changes if burnt or put in acid
**Bone in Heat:** - Heat burns away the organic parts (like collagen), leaving only minerals (mostly calcium phosphate) - Bone becomes brittle, lighter + weaker - process called calcination **Bone in Acid:** - Acid dissolves the minerals (calcium phosphate), leaving mostly collagen - Bone becomes flexible, soft + weaker
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Draw the structure of a Haversian system (osteon) | need to know structure drawing
- found in compact bones - the **structural unit of compact bone** Components: **Haversian canal:** A central canal containing arteries, veins, nerves, lymph ducts **Lamellae:** Concentric layers of bone matrix around the Haversian canal **Lacunae:** Small spaces between lamellae that contain osteocytes (bone cell) **Osteocytes:** Bone cells that maintain the bone matrix **Canaliculi:** Tiny channels that connect lacunae, allowing osteocytes to communicate + exchange nutrients
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osteocytes?
**osteocytes** [bone cell] - Live in lacunae (small spaces between lamellae) - Extend tiny "arms" = `canaliculi`, which are little channels used for communication + nutrient exchange - Maintain bone tissue and are connected to each other + the central Haversian canal by tiny canaliculi channels
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osteoblasts?
**osteoblasts** - specialized bone cells responsible for the formation of bone tissue Produce + secrete bone matrix, which consists of: - `Collagen fibers` → give bones flexibility + strength. - `Mineral salts` (mainly calcium phosphate) → give bones hardness - calcium makes bones hard + can be used for milk production in women - The matrix hardens (calcifies) to form new bone. [Once octeoblasts get trapped inside the hardened matrix, they become osteocytes]
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Do bones have blood vessels
- bone has blood vessels through it which means that a fracture can cause major blood loss - improvised explosive devices smash limbs so badly that the only way to control the blood loss is relatively quick amputation
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Structure of long bone - Femur example | need to know structure drawing
**Epiphysis** (proximal and distal): ENDS OF BONE - The rounded ends of the bone, where it articulates with other bones at the joint - Contains spongy bone (also called cancellous bone) + is filled with bone marrow. **Diaphysis**: LONG MIDDLE OF BONE - The long, central shaft part of the bone - Contains compact bone on the outer layer + a central cavity (the medullary cavity) filled with bone marrow ... - articular or hyaline cartilage - Trabeculae (thin,flat layers of bones) - Spongy bone (support + also RBC production) - Red bone marrow - blood cell prduction - Compact bone - Yellow marrow - Periosteum - Trabeculae - articular or hyaline cartilage | Femur links to hip breakages in older people
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trabeculae
- **Small, needle-like structures** that make up the **spongy bone** (cancellous bone) - Trabeculae form a network of **thin, interconnecting rods or plates**, creating a **lattice-like structure** within spongy bone - They help to make the **bone lighter** while still providing strength + support - The spaces between trabeculae are filled with bone marrow (red marrow in spongy bone), where blood cell production occurs
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Osteoporosis
A bone disease that occurs when the body breaks down more bone than it replaces = makes bones weak + brittle = more likely to break = increasing the risk of fractures bone resorption (breakdown of bone tissue by osteoclasts) outpaces bone formation (by osteoblasts), leading to a decrease in bone density
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Risk factors of Osteoporosis
**Age**: The risk increases as you get older **Gender**: Women more likely to develop osteoporosis, especially after menopause due to lower estrogen levels [estrogen plays crucial role in maintaining healthy bone density + structure] **Lifestyle**: Lack of physical activity, poor diet (low in calcium + vitamin D) smoking + excessive alcohol use **Genetics**: Family history of osteoporosis increases risk *Symptoms*: no symptoms until a bone breaks - Common fractures occur in the spine, hip + wrists
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Hormone Replacement Therapy (HRT)
- treatment used to relieve symptoms of menopause by replacing hormones that the body no longer produce - provides estrogen + sometimes progesterone to help manage menopause symptoms (hot flashes, night sweats) - **Helps prevent osteoporosis (bone loss) in postmenopausal women** as increases eostrogen levels
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Hip replacement surgery
- A surgical procedure in which a damaged or worn-out hip joint is replaced with an artificial joint (prosthesis) - Relieves pain + improve function in people with hip joint problems, typically caused by arthritis, fractures, or other joint disorders
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How can simple falls landing badly cause fracture of skull?
Simple falls landing badly can transmit impact up spine causing fracture of skull - When you fall, the impact from landing can travel through the body, along the spine - Thee force can travel up the spine to the head, potentially causing a skull fracture or injury to the brain
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# **Tissues - cartilage** Hyaline cartilage? Structure?
- Type of connective tissue that provides support + flexibility in various parts of the body **Structure**: - most common type of cartilage + has smooth, glassy appearance - Made up of chondroblasts / chondrocytes (cartilage cells) embedded in a gel-like matrix of collagen + proteoglycans - chondroblasts secrete matrix (chondrin) - No Blood Vessels / Nerves - Relies on synovial fluid for nutrient supply + waste removal = slow to heal **Function**: - Provides Support - Reduces Friction: Covers the ends of bones in joints minimizing wear + tear - Assists in Growth: Forms the embryonic skeleton + template for bone development | covers the end of femur bone + ends of bones in synovial joints
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Hyaline cartilage on joints [articular cartilage]
In joints, hyaline cartilage is known as articular cartilage + plays role in smooth joint movement - **Reduces Friction**: Provides a smooth, slippery surface for bones to glide over - **Absorbs Shock**: Helps distribute loads across the joint = reducing stress on bones - **Protects Bones**: Prevents direct bone-to-bone contact = minimizing wear + tear
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Chondrin
**Chondrin** (outdated term): - describe the gel-like part of the cartilage matrix - responsible for cartilage's flexibility + support - part of the overall extracellular matrix **Chondroblasts** - Immature cartilage cells - produce + secrete the extracellular matrix (ECM) of cartilage - The matrix they secrete contains: Collagen fibers for strength, Proteoglycan +Glycoproteins
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Arthritis
Inflammation of the joints, causing pain, swelling, and stiffness 2 types 1. *Osteoarthritis*. Cause: **Wear + tear on cartilage** due to **aging** 2. *Rheumatoid Arthritis*. Cause: Autoimmune disease where the **immune system attacks joint lining**
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Yellow Elastic Cartilage
**Function:** Flexible support for structures that need shape retention and flexibility **Elastic Fibers:** Provides flexibility and cartilage can returns to shape after stretching **Color:** Yellowish due to elastic fibers **Chondrocytes:** Cells found in lacunae **Locations:** External ear, epiglottis, Eustachian tube
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White Fibrous Cartilage (Fibrocartilage)
**Function:** Shock absorption + tensile strength for areas under heavy stress. **Collagen Fibers:** Dense collagen fibers provide strength + resistance to compression **Chondrocytes:** Fewer cells in lacunae compared to other types **Locations:** Intervertebral discs, pubic symphysis, menisci, temporomandibular joint. | Cartilage + bones are also types of connective tissue
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# **Tissues - muscles** What are the 3 types of muscles
1. Visceral / **smooth** / **involuntary** muscle 2. Skeletal / striated / **voluntary** muscle 3. **Cardiac** muscle
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1. Visceral / smooth / involuntary muscle
**Structure**: - Spindle-shaped cells with a `single nucleus` + no striations + has `elastin` **Control**: Involuntary (controlled automatically) **Location**: - Walls of internal organs (eg stomach, intestines, blood vessels) **Function**: - Involved in peristalsis, control of blood pressure, distribution of blood flow, blood pressure, vasoconstriction + vasodilation - Controls the movement of substances within organs (eg food through digestive system, blood through vessels) **Example**: - Digestive system - Stomach, bladder blood vessels - arteries, veins
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2. Skeletal / striated / voluntary muscle
**Structure**: - Long, cylindrical fibers with `multiple nuclei` + visible `striations` (stripes). - `actin` - protein filament involved in muscle contraction - `myosin` - protein with myosin heads that form cross-bridges with actin + Uses ATP for contraction - `cross bridges` - for muscle contraction [form between actin + myosin heads within sacromere] - `Sarcomere` - basic unit of a muscle fiber Made up of actin + myosin filaments. [z-line to z-line forms 1 sacromere] **Control**: - Voluntary (controlled consciously). **Location**: - Attached to bones for movement **Function**: - Responsible for body movement, posture + generating heat. **Example**: - Biceps, quadriceps.
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3. Cardiac Muscle
**Structure**: - `Branched` cells with a `single nucleus` and *striations*; cells joined by `intercalated plates / discs` **Control**: - Involuntary (controlled by the heart's pacemaker). **Location**: - Heart **Function**: - Pumps blood throughout the body **Example**: - Heart muscle
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# **Nervous Tissues** Nervous system - central nervous system [CNS]
- CNS consists of brain + spinal cord 1. Stimuli detected by **Receptor** [converted to electrical impulse] 2. Impulse sent along **sensory neurone** to the **CNS** 3. **CNS** processes impulse 4. **Motor neurone** carries impulse from CNS to **effector** 5. **Effector** cause response in body | flow diagram: arrow from receptor > CNS > effector [muscle+glands]
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Nerve cell structures
- **dendrites**: Receive nerve impulses from other neurons / sensory receptors + transmit them towards the cell body - **Cell body**: Contains nucleus, which controls the cell’s activities. processes incoming signals - **axon**: Carries nerve impulses away from the cell body towards other neurons, muscles, or glands - **myelin sheath** - **node of Ranvier** - **Axon Terminal**: Sends the nerve impulse to the next neuron, muscle, or gland by releasing neurotransmitters
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- **myelin sheath**? - **node of Ranvier**?
- **myelin sheath**: Fatty layer that insulates the axon + increases the speed of nerve impulse transmission - **node of Ranvier**: Small gaps between sections of the myelin sheath that allow the impulse to jump from one node to another = speeding up transmission. [1mm between each node of ranvier]
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Sensory neurone / nerve cell
`Carries sensory information from receptors (eg skin, eyes, ears) to the CNS for processing.` - **long dendrites** - carry impulses from sensory receptors to the CNS - Cell body is located outside the CNS in the dorsal root ganglia. - **long axon** - often myelinated Receptor detect stimuli (like touch, heat, sound) | know diagram
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Intermediate Neuron / nerve cell (Motor neurone)
```Relays messages between sensory + motor neurons and processes information in the CNS + forms reflex arcs``` - **Short axon** as they only transmit impulses within the CNS - Cell body + dendrites are in the CNS. - Connects sensory + motor neurons.
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Motor Neurone / nerve cell
```Transmits nerve impulses from the CNS to effectors (muscles or glands) to cause a response``` - **short Dendrites** = receive signals from intermediate neurons - **Long axon** - carry impulses from cell body to muscles / glands. - Cell body is located in the CNS (spinal cord or brain). - **myelin sheath** (made by **Schwann cells**) - **Axoplasm** - the cytoplasm inside the axon of a neuron
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What is the Reflex arc
- neural pathway that controls an automatic, involuntary response to a stimulu - very useful as message gets from receptor to effector quickly as possible - do not waste time thinking about what to do = involuntary action - brain only consciously aware of what is happening after mesage is sent to the muscle
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Reflex arc steps
1. **Stimulus** (heat, pain, touch) detected receptor (skin) 2. **Receptor** converts stimulus into electrical impulse 3. **Sensory Neuron** carries the impulse from the receptor to the spinal cord (CNS) 4. **Relay/intermediate Neuron** transfers impulse from sensory neuron to motor neuron [does not involve the brain] 5. **Motor Neuron** carries impulse from spinal cord to effector (muscle / gland) 6. **Effector** (muscle) responds to the impulse by contracting / moving =causing quick reaction 7. **Response** = automatically move your hand away from the hot surface (without thinking)
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speed of nerve transmission linked to myelin sheath
- myelin sheath acts as **electrical insulator**, preventing the electrical impulse from leaking out of the axon = helps the impulse travel more efficiently - myelin sheath has small gaps called **Nodes of Ranvier** (unmyelinated gaps). - The electrical impulse jumps from one Node of Ranvier to the next, instead of traveling continuously along the axon - =called **saltatory conduction** = significantly increases speed of nerve transmission
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Conduction velocity depends on....
1. **Myelination of neurone** - nerve impulse trvels faster in myelinated nerve - In a myelinated neuron = impulse can travel at speeds up to 3-120 m/s - In an unmyelinated neuron, the impulse speed is much slower, around 1-3 m/s 2. **Axon diameter** - the larger the diameter = the faster the conduction 3. **Number of synapses** - more synapses = slow conduction velocity
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1. What’s potential difference? (voltage) 2. Resting potential?
1. **Potential difference** measures the difference in charge across a membrane (inside v outside axon) 2. **Resting potential** - The potential difference across the cell membrane of a neuron at rest which is around **-70 millivolts (mV)** - Nerve cells are polarised in their resting state = As a result there is a difference in the voltage across the neuron membrane, with a value of -70mV known as the resting potential
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How is this resting potential generated and maintained?
- Due to the **sodium - potassium pump** which moves sodium ions out of the neuron + potassium ions into the neuron - Requires energy = ATP broken into ADP + P [active transport - also called Na+K+ ATPase] - To **pump out 3 NA+** and **pump in 2 K+** (actively transported) - Because for every 3 NA+ pumped out, only 2 K+ pumped in = number of positive ions outside membrane is higher than inside - makes **inside of axon more negative** -70mV compared to outside (which is positive)
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Action potential? | learn graph that shows different stages of action potential
The temporary change in electrical potential across the membrane of an axon [+40 mV] in response to the transmission of a nerve impulse
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How is action potential generated? Recovery?
1. When impulse arrives = axon membrane becomes permeable to Na+ 2. Na+ outisde is 10x more concenrated = Na+ diffuse into neuron 3. =inside the cell becomes positively charged/less negative = about +40 mV = generates action potential 4. As Na+ enters cells = K+ begin to leave (Facilitated diffusion) = start of recovery = inside of axon becomes more negative again 5. recovery = sodium-potassium pump returns voltage back to resting potential by pumping NA+ out and K+ in = resting potential equilibrium restored
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Synapse
- where 2 nerves meet - a "swelling" or thicker part of the nerve at the synapse = sometimes called synaptic knob - Know the diagram including: presynaptic membrane, mitochondria, synaptic cleft, post-synaptic membrane - synaptic vesicles contain acetylecholine = neurotransmitter molecule
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What happens at the synapse
1. **Electrical impuls**e arrives at synaptic knob 2. Impulse causes **calcium ions** to **enter** the neurone / knob from synaptic cleft 3. Ca²⁺ causes synaptic vesicles containing **acetylcholine** to move towards the pre-synaptic membrane 4. Acetylcholine is discharged into the **synaptic cleft** 5. Acetylcholine **diffuses** across the synaptic cleft + binds to receptors on postsynaptic membrane = **depolarizing** the **post-synaptic membrane** 6. **Local influx of Na⁺** into the post-synaptic membrane causes an **excitatory post-synaptic potential (EPSP)** 7. If the EPSP is large enough, then the nerve cell develops an **action potential** 8. **Acetylcholinesterase** (cholinesterase) destroys acetylcholine.
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neuromuscular junction
- where a nerve joins with a muscle 1. Impulse arrives 2. Acetylcholine discharged 3. Depolarise muscle end plate 4. if end plates potential is high enough = an action potential is fired into muscle = contracts | learn drawing of this
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Drugs in synapse junction 1. Atropine 2. Eserine 3. Strychine Drug in neuromuscular junction 4. Curare
1. **Atropine** - stops post synaptic membrane depolarising = [Blocks acetylcholine receptors] blocks action of acetylcholine = preventing nerve impulses from affecting muscles / glands 2. **Eserine** - prevents acetylcholinesterase from destroying acetylcholine 3. **Strychine** - enhances synaptic transmission causing convulsion (rapid involuntary muscle contractions) 4. **Curare** = South American Indian arrow poison, works in similiar way to atropine - Blocks nicotinic acetylcholine receptors on muscle cells = preventing acetylcholine from binding + triggering muscle contractions