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Diseases for MCM Flashcards

(52 cards)

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1
Q

BRCA 1

A

Usually carries out DNA repair pathways, tumor suppressant
mutuation or damage creates improper folding of BRCA protein –> not useful
patients predisposed to beat, ovarian cancer.
This protein has a-Helix

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2
Q

Huntingtons disease

A

DNA mutation leads to long (>36 glutamine residue)
Translated to long protein
Protein builds up and interferes with nerve function
Notice drop in neurotransmitter levels (GABA)
Characterized by ‘boxcar’ basal ganglia

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3
Q

Barth Syndrom

A

Defect in metabolism of phospholipids
Mutated TAZ gene = nonfunctional tafazz protein (which modifies lipid in mitochondrial membrane –> low cardiolipin (mito membrane lipid)
patients suffer from: exercise intolerance, growth delay, neutropenia, cardiomyopathy, and reduced life expectancy

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4
Q

Progeria

A

Advanced aging syndrome

Cells express low levels/ no telomerase

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5
Q

Telomerase role in cancer

A

Telomerase has high levels of telomerase

Cells continue to divide, live for ever

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6
Q

Bloom’s Syndrome

A

Deffective BLM protein (RecQ helicase)
Unable to unzip DNA for repair (predisposed to cancer)
Pateints show: premature aging, photosensitivity, red facial ‘butterfly-like’ rash, short stature, developmental defects.

Blooming butterfly

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7
Q

Thalassemia

A

inherited blood disorder. Body makes abnormal Hb

one point mutation can throw off splicing mechanism

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8
Q

Trisomy 21

A

Down syndrome (extra copy of chromosome 21)

Usually from nondisjunction of oocyte formation

Growth retardation, mental disabilities

craniofacial defects

cardiac defects in 40%, usually septal defects of PDA

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9
Q

Trisomy 18

A

Edward Syndrom (extra chromosome 18)

Only 5-10 % survive first year, handful live to be 10

Clenched fists: fingers/ hands flexion

Cardiac defects, mental disability, craniofacial: low-set ears

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10
Q

Trisomy 13

A

Patau Syndrome (extra chromosome 13)

Mental disability, cardiac defects, craniofacial: cleft lip and palate, eye defects

Deafness

90% die within first month, 5% live past first year

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11
Q

Klinefelter Syndrome

A

Trisomy– XXY, 47

presence of Barr bodies (inactive male x chromosome)

Sterile

Testicular atrophy, gynecomastia (develop breasts)

Usually very tall, long limbed

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12
Q

Triple X syndrome

A

Females, XXX, 47

Two barr bodies (inactive X chromosome) in cells

carrying degree of mental disability

amenorrheic

No classical pattern of malformation

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13
Q

Monosomy

A

Turner Syndrome 45, X

One less copy of X chromosome, female

Paternal nondisjunction, 80%

Only monosomy compatible with life

Short, broad chest, short neck

congenital lymphedema of hands/feet

Streak gonads

Lack of secondary sex characteristic development at puberty

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14
Q

Cri du Chat syndrome

A

partial deletion of the short arm of chromosome 5

characteristic cry of the cat due to malformation of larynx

growth retardation

Mental Disability, microcephaly

Cardiac defects

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15
Q

Deletion 4q Syndrome

A

Partial deletion of long arm of chromosome 4

Growth retardation,

varying degrees of mental disability

Cleft palate

Limb abnormalities

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16
Q

Angelman Syndrome

A

Microdeletion- long arm of MATERNAL chromosome 15

Intellectual disability

puppet-like gait

Absent Speech

Prone to unprovoked periods of uncontrolled laughter

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17
Q

Prader-Willi Syndrome

A

Micro deletion- long arm of PATERNAL chromosome 15

Intellectual disability

obesity and hypotonia

Hypogonadism

Undescended testes

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18
Q

von Gierke disease

A

deficient G-6 phosphotase, GSD type I

cannot release glucose from G6P

Severe hypoglycemia, lactic acidosis, hepatomegaly (due to increase in g6P), hyperuricemia

Hyperlipidemia is secondary– body realizes it needs another form of energy, breaks down lipids and dumps in blood.

Glycogen storage disease

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19
Q

Pyruvate Kinase deficiency

A

won’t make sufficient ATP because no pyruvate

Can cause hemolytic anemia

build up of 2,3 BPG—> decreases affinity for O2

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20
Q

Hemolytic anemia

A

PK deficiency= No Heinz bodies

G6PD= Heinz bodies

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21
Q

Retinal Blastoma

Study These Flashcards
A

Bad Rb gene > can’t stop EIIF from turning on replication genes.
Rb is a tumor supressant
eye cancer

22
Q

ALS

Characterized by?

Study These Flashcards
A

Amyotrophic Lateral Sclerosis, thought to be cause by protein aggregates

Characterized by progressive degeneration of motor neurons.
Occurs in brainstem, brain and spinal cord

2 proteins thought to form aggregates

  1. Superoxide dismutase (SOD I)- handles superoxide free radicals from mitochondria. Free radicals build up cause stress for cell and ER > cell death
  2. TDP 43- Part of transcription process. Recruited when pre mRNA is going to be processed. Form occlusion granules in motor neuron and glial cells

Mechanisms:

  • Aggregates inhibit Autoplagy and Ubiquitin proteosome sysetms.
  • disturbance is RNA metabolism
  • effect communication between neurons
  • cytoskeletal defects, axonial transport dysfunction
  • mitochondrial dysfunction

Causes muscle atrophy of skeletal musces

23
Q

Type II diabetes (related to protein misfolding)

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A

insulin resistance, loss of B cell function and mass

protein: Amylin (IAAP)- hormone co-localized, co-secreted, co-packaged with insulin.

Misfolded Amylin- causes dysfunction in b cells (decrease mass)
ER stress (hyperglycemia, insulin compensation...) > misfolded protein> defective folding response, defective ubiquitin... > inhibition of protein synthesis > aggregates (only takes hours or days to aggregate)

Also clogs up golgi> secretory vessels not working properly > Autophagy not working > proteins can form pores in mitochondria > trigger cell death

Amylin seems to bind to macrophages, cause inflammation

24
Q

what does amylin do?

Study These Flashcards
A
  • inhibit glucagon
  • delay gastric emptying
  • tells brain that you are full
  • cosecretion with insulin

related to type II diabetes, misfolded protein

misfolded protein can form pores in mitochondria.

25
Lactate Dehydrogenase deficiency
Patients cannot do moderate levels of exercise. Unable to use glycolysis to form ATP under anaerobic conditions. Because not regenerating NAD
26
Thiamine Deficiency with alcoholics (Wernicke-Korsakoff Disease)
Alcoholics are deficient in Thiamine If no thiamine--> PDH does not work Causes weakness, hypoglycemia, low ATP DO not give i/v with glucose > will saturate system get turned to lactate > die of lactic acidosis Ataxia (loss of control of bodily movements) cerebral hemorrhage memory loss
27
arsinic
found in rat poison, pesticides, chemicals, moonshine | inhibits PDH
28
Lactase deficiency
symptoms- diarrhea, bloating, cramping From osmotic and bacteria fermentation effects #1 genetic condition of all time
29
Galactokinase deficiency
Cataracts early in life
30
Galactosemia
Related to either Glactokinase or G16 uridyl transferase deficiency Glactokinase not as sever (only cataracts early)
31
Gal 1P uridyl transferase deficiency
Galactosemia, more severe version ``` Early cataracts AND other symptom(s): vomitting diarrhea after lactose ingestion lethargy liver damage, hyperbillirubinemia Mental retardation ``` depends on which tissues it builds up in. More serious because Gal1P is tagged and can't leave the cell, brings water in and causes damage
32
Fuctokinase deficiency
Benign
33
Aldolase B deficiency
``` Symptoms: Lethargy, vomitting Liver damage, hyperbillirubinemia Hypoglycemia Hyperuracemia renal proximal tubule defects ``` No brain damage here No early cataracts
34
Why is aldolase B deficiency noticed when babies start eating solids?
Because milk has lactose which is not effected in fructose metabolism. once starts solids the baby will intake sucrose and see problems.
35
Barbiturates, Rotenone
Rotenone is fish poison Inhibit e- transfer from complex 1 to coenzyme Q Cant make ATP in normal way. Bypass reactions, e- from other source to CoQ, still makes little ATP
36
Where and how does cyanide, carbon monoxide, and azide effect ATP production?
Cyanide binds to Fe3+ in Complex 4. Fe3+ cannot accept e to become Fe2+. This stops e flow and backs everything up. No e flow= no H+ gradient = no ATP Cyanide kills because no ATP is produced. Treated by nitrite.
37
Where does Myxothiazol inhibit?
inhibits transfer from CoQ (UQH2) to complex 3
38
Where does oligomycin inbhibit?
(antibiotic) inhibits ATP synthase by binding to channel, blocking H+ Side effect of antibiotic
39
Pompe Disease
GSD type II Lysosomal a14 glucosidase cardiomegaly, muscle weakness, death by age 2
40
Cori Disease
GSD type III Glycogen debranching and glycogen phosphorylase Mild hypoglycemia, liver enlargment Like type I but not as severe hypoglycemia
41
Anderson Disease
GSD type IV Deficient branching enzyme Liver failure causes death by age 2, immune system attacks liver, needs liver transplant
42
McArdle Disease
GSD type V Deficient: Muscle glycogen phosphorylase muscle cramps and weakness with exercise McAdle for muscle
43
Hers Disease
GSD type VI Glycogen phosphorylase deficiency Hepatomegaly (like type I but more mild) Hers for Hepatic
44
Wernicke-Korsakoff Disease
HMP Shunt pathway, genetic mutation in gene that makes transketolase Transketolase has reduced affinity for TPP (thiamine pyrophosphate) THIAMINE is not deficient PATH: ataxia, psychosis, confusion, brain not function properly helped with thiamine therapy
45
G6PD deficiency
3 main features: 1. immunodeficieny 2. heinz bodies 3. hemolytic anemia G6PD makes pentose phosphates in liver and NADPH which is needed: Liver: for biosynthesis (fatty acids, cholesterol, nucleotides) Neutrophils: need e-s to kill bacteria via superoxides. Erythrocytes: metHb reductase uses NADH to reduce metHb to Hb (detoxify free radicals)
46
Beriberi
Thiamine deficiency affecting all 4 thiamine dependent enzymes.
47
Situs inversus
Organs on opposite side (Complete, or Incomplete - one organ flipped) Could be due to: Improper signaling during gastrulation, failure to establish L-R six Possibly due to cilia in node directing the wrong way. 20% patients develop chronic sinusitis which is why they think this is a cilia problem
48
Sirenomelia (Caudal dysgenesis)
Mermaid syndrome Failure of mesoderm production in caudal portion of embryo lower limb hypoplasia, fusion of limbs, vertebral anomalies, renal agencies, imperforate anus, genital anomalies
49
Teratoma
tumor of germ cell origin in other places
50
Kartagener Syndrome
primary cilliary dyskinesia Microtubules can't work/move. Can effect men or women.
51
Hydatidiform Mole
Complete mole- fertilization of an empty oocyte. Male pronucleus replicates to form diploid cell which divides. Partial mole- poorly developed embryo, always triploid (XXX) Secrete high levels of hCG Persistent trophoblastic diesease- if mole not removed it can become invasive, 5% moles form caner
52
Amnion Problems
oligohydramnios- too little fluid (

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