gentics Flashcards
(9 cards)
How can mitochondrial diseases cause disease?
increased apoptosis leads to decreased CNS function, poor wound healing and immunosuppression
Too much mTOR is associated with increased longevity
T/F
F
bad for health and exhaust the stem cell reserves
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?
cataracts, osteoporosis, atherosclerosis, diabetes, periferal neuropathy, gonadal atrophy.
MI or cancer
WNR DNA/RNA helicase, telomere maintenance, and double stranded break repair
Hutchinson-Gilford progeria syndrome is caused by a failure of what gene? This leads to what micro and macroscopic features?
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.
whats the current theory of aging; explain
post translational modification
glycation and AGE stimulating pro inflammatory cytokines
The DNA protein complexes on the ends of chromosomes are called what?
telomeres
Why do telomeres get shorter over time
because the extreme ends can’t be copied
Senescence is biological aging and when referring to telomeres what problems arise from their decreasing length?
if cell division continues when telomeres are too short the chromosome becomes unstable
Why are most tumor benign? How can telomerase activity make tumors immortal?
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