Dyskeratosis congenita, telomeres and human ageing.
As normal humans age, telomeres shorten in tissues that contain dividing cells, and this has been proposed both as a cause of ageing and as a tumor-suppressor mechanism. The surprising finding that cells from individuals with the rare inherited disorder dyskeratosis congenita (DKC) have reduced levels of telomerase and shortened telomeres might provide the first direct genetic test of the function of telomeres in intact humans.
Marciniak
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Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA. robmarc@mit.edu
Johnson
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Guarente
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D000375:Aging / Q000502:physiology*; D000818:Animals; D019871:Dyskeratosis Congenita / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D009369:Neoplasms / Q000235:genetics; D019098:Telomerase / Q000378:metabolism; D016615:Telomere
D019098:Telomerase