Werner's syndrome: from clinics to genetics

Abstract

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.