Werner's syndrome. Biochemical and cytogenetic studies.
Werner's syndrome is a rare condition of autosomal-recessive inheritance, showing some features of accelerated aging. We describe the clinical findings and laboratory studies in a 29-year-old man with this disorder, who presented because of a leg ulcer. Skin fibroblasts from our patient were difficult to culture and proliferated more slowly than those of controls. They produced less glycosaminoglycans than those of controls but synthesized more collagen, which was normal in type. The patient's urinary glycosaminoglycan level was slightly elevated, with hyaluronic acid as a major component. His peripheral blood lymphocytes showed no chromosomal instability and responded normally to mutagens.
D000328:Adult; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D003094:Collagen / Q000096:biosynthesis; D005347:Fibroblasts / Q000378:metabolism; D006025:Glycosaminoglycans / Q000378:metabolism / Q000652:urine; D006801:Humans; D008214:Lymphocytes / Q000473:pathology; D008297:Male; D012854:Sister Chromatid Exchange; D014898:Werner Syndrome / Q000235:genetics / Q000378:metabolism*
D006025:Glycosaminoglycans; D003094:Collagen