Shared phenotypes among segmental progeroid syndromes suggest underlying pathways of aging.
Segmental progeroid syndromes are those whose phenotypes resemble accelerated aging. Here we analyze those phenotypes and hypothesize that short telomeres produce the same group of symptoms in a variety of otherwise unrelated progeroid syndromes. Specific findings are the following: (a) short telomeres in some progeroid syndromes cause an alopecia/osteoporosis/fingernail-atrophy group of symptoms; (b) fingernail atrophy in progeroid syndromes resembles the natural slowing of nail growth that occurs in normal aging and nail growth velocity, and may be a marker of replicative aging in keratinocyte stem cells; (c) alopecia and reduced hair diameter parallel the nail results; (d) osteoporosis in Dyskeratosis Congenita resembles age-related osteoporosis, but the same is not true of other progerias; and (e) gray hair is associated with short telomeres, but may also involve reactive oxygen species. On the basis of these results, we make several predictions and discuss how the segmental quality of progeroid syndromes may provide insight into normative aging.
Hofer
Anne C
AC
Department of Psychology, The University of Texas at Austin, Austin, Texas 78703, USA.
Tran
Rosie T
RT
Aziz
Owais Z
OZ
Wright
Woodring
W
Novelli
Giuseppe
G
Shay
Jerry
J
Lewis
Marc
M
D000375:Aging / Q000502:physiology*; D006197:Hair / Q000502:physiology; D006801:Humans; D009262:Nails / Q000502:physiology; D010024:Osteoporosis / Q000209:etiology / Q000235:genetics; D010641:Phenotype; D011371:Progeria / Q000150:complications / Q000235:genetics*; D019098:Telomerase / Q000502:physiology; D016615:Telomere
D019098:Telomerase