GERON255 Lecture Notes - Lecture 14: Heart Failure, Progeria, Rare Disease

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2015-06-30 (cid:1) (cid:1) (cid:1) (cid:1) (cid:1) (cid:1) (cid:1) Rare disease (1 in 8 million births) Hits in infancy, born without symptoms but develops by age 7. Age related characteristics: loss of hair, wrinkles (loss of subcutaneous fat), muscle wasting, age spots, infertility, arthritis. Do not develop: cataracts, diabetes, cancers, mental slowness. Note: these are not true aging processes but rather appear to mimic some normal age-related changes. More of an adult progeria (develops at age 15-20) Rare disease occurring every 3 in 1 million. Age related characteristics: grey hair, wrinkles, age-spots, infertility (cid:1) (cid:1) (cid:1) (cid:1) (cid:1) (cid:1) (cid:1) (cid:1) Physiological age-related changes: cataracts, atherosclerosis, osteoporosis, diabetes, limited # cancers. Most common causes of death are cancer and c. v. disease. Do not develop: rarely develop dementia, alzheimers. Error in cell division of parent causes an extra copy of chromosome #21 in egg or sperm cell. Not a mutation but a gene dosage problem.

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