Werner's syndrome: a review of recent research with an analysis of connective tissue metabolism, growth control of cultured cells, and chromosomal aberrations.
Werner's syndrome is a rare, autosomal recessive condition with multiple progeroid features, but it is an imitation of aging rather than accelerated or premature senescence. Somatic chromosome aberrations occur in multiple tissues in vivo and in vitro, and there is an increased incidence of neoplasia. Thus. Werner's syndrome can be classified in the group of chromosome instability syndromes. Recent findings provide additional support for the concept that there is an aberration of connective tissue metabolism in Werner's syndrome, but it is unclear whether this is a primary or secondary manifestation of the underlying genetic defect. Abnormal growth characteristics are observed in cultured skin fibroblast-like cells and this provides another avenue for current research. Identification of the basic genetic defect in Werner's syndrome might clarify our understanding of the normal aging process in general, or might elucidate specific aspects such as the development of neoplasia, atherosclerosis, diabetes, or osteoporosis.
D000375:Aging; D002470:Cell Survival; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D003094:Collagen / Q000378:metabolism; D003238:Connective Tissue / Q000378:metabolism*; D004702:Endocrine Glands / Q000503:physiopathology; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D005808:Genes, Recessive; D006801:Humans; D007111:Immunity, Cellular; D008297:Male; D009030:Mosaicism; D009369:Neoplasms / Q000235:genetics; D011509:Proteoglycans / Q000378:metabolism; D012306:Risk; D012867:Skin / Q000166:cytology; D014178:Translocation, Genetic; D014898:Werner Syndrome / Q000235:genetics* / Q000503:physiopathology
D011509:Proteoglycans; D003094:Collagen