Human Aging Syndromes

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Human Aging Syndromes

• 3,000 specific genetic syndromes
• None increase longevity!

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John Tacket, Age 15 1988-2004
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Premature Aging (Progeroid) SyndromesAccelerated
Biological Aging
1. Down Syndrome 2. Werner Syndrome 3. Cockaynes
Syndrome 4. Progeria 5. Ataxia -
telangiectasia 6. Seips Syndrome 7. Cervical
dysplasis 8. Kleinfelters Syndrome 9. Turners
Syndrome 10. Myotonic Dystrophy
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What is a Syndrome ?
Syndrome - a cluster of apparently unrelated
symptoms e.g. AIDS
Progeroid Syndromes Cells isolated from
progeroid patients display reduced numbers of
doublings when compared to normal at same age.
(shorter Hayflick Limit)
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Down Syndrome
Trisomy - 21 Non-disjunction (Chromosome
21) only 8 survive to age 40 developmental
disorder development delayed fails to achieve
full devel. Accelerated shortening of
telomeres Accelerated apparent
aging graying, hairloss, dementia overproduc
e APP-? B-amyloid
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Werners Syndrome(progeria of the adult)
Autosomal Recessive (must inherit 2
copies) carrier (1 copy) normal in
childhood stop growing during teens graying
(20), balding (25), muscular gonadal
atrophy osteoporosis, arteriosclerosis,
cataracts (30-35) Mean Death at 47 Gene-
Chromosome 8 (deletion) Helicase - DNA unwinding
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Hutchison-Gilford Progeria
Spontaneous Germ-Line Mutation Autosomal
Dominant 1 birth in 8 million 100 patients
world wide normal at birth cease growth at
5 lose subQ fat (veins visible) beaked nose,
undevel. Jaw mean death at 13 Lamin A gene
(4/16/03) structural nuclear prot. Nucleus
unstable
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