(1)Department of Rheumatology, Tokyo Metropolitan
Ohtsuka Hospital, 2-8-1 Minami-Otsuka, Toshima-ku, Tokyo 170-0005,
Japan
Abstract
Abstract Werner syndrome (WS), caused by the
mutation of the RecQ3 DNA helicase gene (loss of function), manifests
scleroderma-like skin changes and juvenile cataracts in addition
to a variety of clinical and biochemical aging phenotypes at an early
stage of life, followed by death at an average age of 46 years. WS
has been nominated as a top-ranking premature aging syndrome, or
a human model of accelerated aging. Analyses of clinical and biological
deterioration of body systems observed in WS may shed a unique light
on the role of gene(s) in the pathogenesis of systemic sclerosis
(SSc) and normal human aging.
Key words
Key words Autoantibody ・ Genetic instability
・ Helicase ・ Systemic sclerosis (SSc) ・ Werner syndrome (WS)
