Werner's syndrome: from clinics to genetics.
Werner's syndrome (WS), a representative progeroid syndrome with chromosomal instability caused by the mutation of RecQ type DNA/RNA helicase, manifests skin changes similar to those observed in systemic sclerosis (SSc). In addition, patients with WS show a variety of the signs and symptoms of normal ageing at an early stage of their life; gray hair, alopecia, muscle atrophy, osteoporosis, cataracts, hypogonadism, diabetes mellitus, hyperlipidemia, atherosclerosis, malignancy, brain atrophy, and senile dementia. Although no direct evidence has been presented linking RecQ type DNA/RNA helicase dysfunction with the occurrence of premature ageing symptoms in WS, WS may give us a unique model to analyze the skin changes and the mechanisms of fibrosis in SSc.
Goto
M
M
Department of Rheumatology, Tokyo Metropolitan Otsuka Hospital, 2-8-1 Minami-Otsuka, Toshima-ku, Tokyo 170-0005, Japan. m.goto-o@ohtsuka
D003240:Connective Tissue Diseases / Q000150:complications; D004700:Endocrine System Diseases / Q000150:complications; D006801:Humans; D007154:Immune System Diseases / Q000150:complications; D008659:Metabolic Diseases / Q000150:complications; D009422:Nervous System Diseases / Q000150:complications; D014898:Werner Syndrome / Q000150:complications* / Q000235:genetics* / Q000473:pathology