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Biochem Exam 1 > Lecture 2 > Flashcards

Lecture 2 Flashcards

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1
Q

your patient presents with discolored and poorly mineralized dentin, fractured enamel and rapid wear and attrition of his teeth. Given this presentation, your patient may well suffer from

A

a mutation in the dentin dialophosphoprotien (DSPP gene)

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2
Q

Konstantin Mereschkowiski

A

suggested chloroplasts were distant relatives of single cell prokaryotes

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3
Q

Lynn Margulis

A

proposed theory of endosymbiosis, furthered a hypothesis on the origin of eukaryotes

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4
Q

endosymbiotic theory

A

a large ANAEROBIC prokaryote took up a smaller AEROBIC prokaryote. larger host protected and provided nutrients for smaller one, smaller one provided energy for larger one. Eventually, aerobic organism lost ability to proliferate independently, evolved into mitochondria and current day eukaryote

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5
Q

origin of chloroplasts

A

originated from photosynthesizing bacteria (cyanobacteria)

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6
Q

evidence to support endosymbiotic theory

A

mitochondria and chloroplasts arise only from pre-existing mitochondria and chloroplasts, have their own genomes, genomes resemble that of prokaryotes, genomes consist of single circular molecule of DNA

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7
Q

streptomycin, rifampicin

A

antibiotics that block protein synthesis within mitochondria and chloroplasts but do not interfere with eukaryotic protein synthesis

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8
Q

diphtheria toxin

A

has no effect on bacterial protein synthesis or on protein synthesis within mitochondria and chloroplasts. does nothing to bacteria but inhibits protein synthesis at the level of eukaryotic protein synthesis

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9
Q

plant cells or animal cells first

A

plant cells evolved from early eukaryotic cells that had already assimilated aerobic bacteria, thus proving that animal cells came first

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10
Q

features that prokaryotes and eukaryotes have in common

A
  1. genetic information is encoded in DNA
  2. the DNA uses a common genetic code
  3. mechanisms of transcription and translation are strikingly similar
  4. metabolic pathways are conserved
  5. chemical energy is stored as ATP
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11
Q

genome

A

organisms’ complete set of DNA, all of the genes

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12
Q

transcriptome

A

set of all RNA molecules: mRNA, tRNA, etc.

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13
Q

proteome

A

full set of proteins generated by genome

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14
Q

genomics

A

study of genome in one organism vs the next

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15
Q

transcriptomics

A

what are the genes inscribed, comparing one organism, tissue, etc. to the next

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16
Q

proteomics

A

study of proteomes, what proteins are expressed in any given situation

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17
Q

human genome

A

3 billion base pairs, 20,000 protein encoding genes

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18
Q

alternative splicing

A

generating a complete protein from various pieces of genetically directed information. one way that functional diversity is amplified

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19
Q

post transcriptional modification

A

chemical modification of a protein, phosphorylating an enzyme for example. one way that functional diversity is amplified

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20
Q

genetics vs genomics

A

genetics looks at single genes, genomics is a science that looks at an organism’s entire genome

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21
Q

looking at genomics enables determination of:

A

gene interactions, gene sequencing differences from one individual to the next, gene influence on biological pathways, physiology and pathology

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22
Q

dentinogenesis imperfecta (DI)

A

discolored teeth, poorly mineralized dentin, fractured enamel, rapid wear and attrition of teeth

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23
Q

Type I DI

A

with osteogenesis imperfecta (OI), mutations in collagen genes

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24
Q

Type II DI

A

mutations in dentin sialophosphoprotein (DSPP gene)

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25
Type III DI
originally Brandywine isolate, mutations in dentin sialophosphoprotein (DSPP gene), mutation interferes with protein secretion such that the mutant protein remains trapped in the endoplasmic reticulum
26
hypophosphatasia
genetic disorder, low levels of serum alkaline phosphatase, can result in dentin effects
27
Ehlers Danlos syndrome (EDS)
hyperextensible skin, tissue fragility, hyper movable joints, can also have dentin defects
28
Amelogenesis Imperfecta (AI)
group of hereditary enamel defects, many subtypes have been identified
29
clinical manifestations of AI
thin enamel, hypomineralized enamel, enamel abrades easily, can be very sensitive to thermal and chemical stimuli
30
AI mutations
AMELX: amelogenin (most abundant enamel matrix protein) ENAM: enamelin MMP20: matrix metalloproteniase-20
31
hypodontia (congenitally missing teeth)
MSX1 defect, PAX9 defect
32
vitamin D
CA2+ absorption, mineral homeostasis, bone health
33
vitamin D deficiency
low mineral bone density/osteoporosis and osteopenia, infectious disease/chronic inflammatory diseases, cancer, periodontal disease/tooth loss, poor birth outcomes, Alzheimer's, schizophrenia, depression, cardiovascular disease
34
a mutation in the dentin dialophosphoprotien (DSPP gene)
your patient presents with discolored and poorly mineralized dentin, fractured enamel and rapid wear and attrition of his teeth. Given this presentation, your patient may well suffer from
35
suggested chloroplasts were distant relatives of single cell prokaryotes
Konstantin Mereschkowiski
36
proposed theory of endosymbiosis, furthered a hypothesis on the origin of eukaryotes
Lynn Margulis
37
a large ANAEROBIC prokaryote took up a smaller AEROBIC prokaryote. larger host protected and provided nutrients for smaller one, smaller one provided energy for larger one. Eventually, aerobic organism lost ability to proliferate independently, evolved into mitochondria and current day eukaryote
endosymbiotic theory
38
originated from photosynthesizing bacteria (cyanobacteria)
origin of chloroplasts
39
mitochondria and chloroplasts arise only from pre-existing mitochondria and chloroplasts, have their own genomes, genomes resemble that of prokaryotes, genomes consist of single circular molecule of DNA
evidence to support endosymbiotic theory
40
antibiotics that block protein synthesis within mitochondria and chloroplasts but do not interfere with eukaryotic protein synthesis
streptomycin, rifampicin
41
has no effect on bacterial protein synthesis or on protein synthesis within mitochondria and chloroplasts. does nothing to bacteria but inhibits protein synthesis at the level of eukaryotic protein synthesis
diphtheria toxin
42
plant cells evolved from early eukaryotic cells that had already assimilated aerobic bacteria, thus proving that animal cells came first
plant cells or animal cells first
43
1. genetic information is encoded in DNA 2. the DNA uses a common genetic code 3. mechanisms of transcription and translation are strikingly similar 4. metabolic pathways are conserved 5. chemical energy is stored as ATP
features that prokaryotes and eukaryotes have in common
44
organisms' complete set of DNA, all of the genes
genome
45
set of all RNA molecules: mRNA, tRNA, etc.
transcriptome
46
full set of proteins generated by genome
proteome
47
study of genome in one organism vs the next
genomics
48
what are the genes inscribed, comparing one organism, tissue, etc. to the next
transcriptomics
49
study of proteomes, what proteins are expressed in any given situation
proteomics
50
3 billion base pairs, 20,000 protein encoding genes
human genome
51
generating a complete protein from various pieces of genetically directed information. one way that functional diversity is amplified
alternative splicing
52
chemical modification of a protein, phosphorylating an enzyme for example. one way that functional diversity is amplified
post transcriptional modification
53
genetics looks at single genes, genomics is a science that looks at an organism's entire genome
genetics vs genomics
54
gene interactions, gene sequencing differences from one individual to the next, gene influence on biological pathways, physiology and pathology
looking at genomics enables determination of:
55
discolored teeth, poorly mineralized dentin, fractured enamel, rapid wear and attrition of teeth
dentinogenesis imperfecta (DI)
56
with osteogenesis imperfecta (OI), mutations in collagen genes
Type I DI
57
mutations in dentin sialophosphoprotein (DSPP gene)
Type II DI
58
originally Brandywine isolate, mutations in dentin sialophosphoprotein (DSPP gene), mutation interferes with protein secretion such that the mutant protein remains trapped in the endoplasmic reticulum
Type III DI
59
genetic disorder, low levels of serum alkaline phosphatase, can result in dentin effects
hypophosphatasia
60
hyperextensible skin, tissue fragility, hyper movable joints, can also have dentin defects
Ehlers Danlos syndrome (EDS)
61
group of hereditary enamel defects, many subtypes have been identified
Amelogenesis Imperfecta (AI)
62
thin enamel, hypomineralized enamel, enamel abrades easily, can be very sensitive to thermal and chemical stimuli
clinical manifestations of AI
63
AMELX: amelogenin (most abundant enamel matrix protein) ENAM: enamelin MMP20: matrix metalloproteniase-20
AI mutations
64
MSX1 defect, PAX9 defect
hypodontia (congenitally missing teeth)
65
CA2+ absorption, mineral homeostasis, bone health
vitamin D
66
low mineral bone density/osteoporosis and osteopenia, infectious disease/chronic inflammatory diseases, cancer, periodontal disease/tooth loss, poor birth outcomes, Alzheimer's, schizophrenia, depression, cardiovascular disease
vitamin D deficiency

Biochem Exam 1 (7 decks)

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