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Repro > week 6 > Flashcards

week 6 Flashcards

1
Q

cellular senescence is ___________ state of cell cycle arrest where as quiescence is the _____________ cell cycle arrest

A

Senescence - irreversible (anti-tumor)

Quiescence - reversible (secrete mitogens)

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2
Q

As you get older _________ proteins (TFs) associated with longevity decline with age and inhibited by insulin

A

FOXO

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3
Q

What molecule inhibits FOXO, that normally activates genes involved in stress resistance? a nutrient sensitive pathway

A

Insulin

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4
Q

Insulin is (anti or pro aging?)

A

PROaging - making aging worse

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5
Q

FOXO is (anti or pro aging)?

A

ANTIaging - longevity

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6
Q

TOR is (anti or pro aging?)

A

PROaging - stimulate aging processes

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7
Q

AMP kinase pathway is (anti or pro aging?)

A

ANTIaging

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8
Q

Sirtuins are (anti or pro aging?)

A

ANTIaging

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9
Q

What genetic pathway that influences aging has NAD+ dependent lysine deacetylases that regulate metabolism, genome stability and other processes?

A

Sirtuins

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10
Q

Telomere shortening is implicated in cellular senescence but CAUSES _________ senescence; the arrest of primary cell cultures after a few rounds of divisions inducing growth arrest and then into crisis.

A

replicative senescence

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11
Q

Replicative senescence of human cells can be reduced by the addition of what enzyme?

A

Telomerase - extends telomere

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12
Q

What component can damage membrane components that is caused by respiration, immune cells, ionizing radiation and hypoxic environments?

A

ROS

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13
Q

What molecules can quench free radicals, iron, and peroxide?

A

Anti-oxidants

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14
Q

Vitamin C (can take as much as you want), E and A (carotenoids) (cannot take as much), melatonin and fish oil are all what?

A

Anti-oxidants

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15
Q

What is described by mutations in mtDNA leading to a decline in electron transport machinery with an increase in ROS which in turn Increases ROS which cycles back to further damage mtDNA?

A

the mitochondrial free radical theory of aging (MFRTA)

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16
Q

What does this hypothesis explain in regards to contributing to aging?

  • defect in proof reading polymerase gamma
  • dominant negative mutation in Twinkie – a mtDNA helicase
  • mtDNA mutation in embryogenesis limiting stem cells life
A

Mitochondrial mutations and the stem cell hypothesis:

17
Q

Why do older cells have shorter telomeres?

A

Because DNA polymerase requires a free 3’ OH, the ends of each chromosome are shortened at each round of DNA replication

18
Q

______ is a Serine threonine kinase that promotes aging by adding phosphate groups to target proteins

A

TOR

19
Q

What are genetic disorders that result in the premature appearance (signs/symptoms) of aging?

A

Progeroid syndromes

20
Q

What type of progeroid syndrome only affects one tissue type and what are two examples?

A

unimodal - Alzheimers and parkinsons

21
Q

What type of progeroid syndrome only affects one tissue type and what are two examples?

A

unimodal - Alzheimers and parkinsons

22
Q

What progeroid syndromes affect subsets of tissues that are involved in normal aging?

A

Segmental progeroid syndromes

23
Q

What two syndromes are caused by mutated NER genes and are part of the TGIIH complex that is involved both in general DNA repair and in transcription coupled DNA repair

A
  • Xeroderma pigmentosum
    • Cockayne syndrome
24
Q

What clinical benefits does caloric restriction on aging?

Lowers: ______ &_______

Increases: _____ & _______

A

Lowers: insulin (IGF) & amino acids

Increases: NAD+ & AMP

25
Q

A patient presents with progressive impaired coordination or voluntary movements, redish skin lesions and mucus membranes due to widening of blood vessels, impaired immune function and increased risk of developing neoplasms, what disease is this?

A
  • Ataxia telangiectasia
26
Q

What mutation causes Ataxia telangiectasia?

A

ATM gene mutation

27
Q

A patient presents with alopecia, no subcutaneous fat, thin and tight skin, prominent veins on head and scalp, protruding lips and small jaw. No intellectual disabilities and normal cause of death is myocardial infarction or stroke between the ages of 7-20 years, what disease is this?

A

Hutchinson-Gilford progeria syndrome

28
Q

Hutchinson-Gilford progeria syndrome is from a mutation in what gene and what mode of inheritance of this disease ?

A

LMNA gene

autosomal dominant

29
Q

A patient in their 20s presents loss of hair, graying, cataracts, diabetes osteoporosis, and is thought to have an increase in risk for certain cancers. What disease is consistent with this presentation?

A
  • Werner syndrome
    *
30
Q

A defect in what gene that encodes a helices is mutated in Werner syndrome? What does this cause?

A

RECQL gene (WRN)

shortening of telomeres with defective DNA repair

31
Q

A patient presents with short stature, mild facial erythema, increased risk for COPD, diabetes and malignancies (not a true premature aging syndrome). What condition is responsible?

A

Bloom syndrome

32
Q

Bloom syndrome is caused by a mutation in what gene that codes for a helices?

A

RECQL genes (BLM)

33
Q

Patient presents with photosensitivity, growth failure, hearing loss, leukodystrophies and ventricular atrophy from dilation causing neuronal aging (type I and II). What condition is this and is caused by a defect in what?

A
  • Cockayne syndrome
    • NER gene
34
Q

Cockayne syndrome is caused by a mutation in what 2 specific NER repair genes?

A

ERCC6 and ERCC8

35
Q

Patient presents with premature aging of the skin, many freckles and cannot be exposed to uv light due to defect in NER. What condition is this ?

A
  • Xeroderma pigmentosum
36
Q

Xeroderma pigmentosum is cause by what 3 NER gene mutations?

A

EPC, ERCC2 and POHL

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