gentics Flashcards

(9 cards)

1
Q

How can mitochondrial diseases cause disease?

A

increased apoptosis leads to decreased CNS function, poor wound healing and immunosuppression

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2
Q

Too much mTOR is associated with increased longevity

T/F

A

F

bad for health and exhaust the stem cell reserves

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3
Q

Werner syndrome is characterized by what symptoms? How do people afflicted with warners syndrome typically die? What gene is mutated in this syndrome and what does it code for?

A

cataracts, osteoporosis, atherosclerosis, diabetes, periferal neuropathy, gonadal atrophy.

MI or cancer

WNR DNA/RNA helicase, telomere maintenance, and double stranded break repair

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4
Q

Hutchinson-Gilford progeria syndrome is caused by a failure of what gene? This leads to what micro and macroscopic features?

A

LMNA mutation accumulation of progress, fragile nuclei, genomic instability, telomere shortening.

Growth restriction by 6 months: degeneration of skin, MSK, and CV systems, bald. Average age of death is 14 from CHF or MI.

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5
Q

whats the current theory of aging; explain

A

post translational modification

glycation and AGE stimulating pro inflammatory cytokines

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6
Q

The DNA protein complexes on the ends of chromosomes are called what?

A

telomeres

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7
Q

Why do telomeres get shorter over time

A

because the extreme ends can’t be copied

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8
Q

Senescence is biological aging and when referring to telomeres what problems arise from their decreasing length?

A

if cell division continues when telomeres are too short the chromosome becomes unstable

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9
Q

Why are most tumor benign? How can telomerase activity make tumors immortal?

A

because they age as they grown and become unstable

If a tumor activates telomerase activity the cell becomes immortal and this is true of 90% of cancers

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