Werner's syndrome


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Werner's syndrome

 [ver´nerz]
premature aging in the adult, transmitted as an autosomal recessive trait, and characterized principally by sclerodermalike skin changes, involving especially the extremities, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, white hair and/or baldness, and a high incidence of neoplasms.

Werner's syndrome

A hereditary, probably autosomal recessive, condition featuring dwarfism, premature ageing, atrophy of the skin, CATARACTS, severe arterial disease, OSTEOPOROSIS, atrophy of the testicles and DIABETES. The condition features accelerated TELOMERE shortening and mutation causing a defect in the DNA helicase protein. (C. W. Otto Werner, b. 1879, German physician).
References in periodicals archive ?
Analysis of helicase gene mutations in Japanese Werner's syndrome patients.
Family analysis of Werner's syndrome: a survey of 42 Japanese families with a review of the literature.
Werner's syndrome: a quite rare disease for differential diagnosis of scieroderma.
A report of a case with Werner's syndrome suffering from end-stage renal failure.
End-stage renal disease in a patient with Werner's syndrome. Nephron 1997;76:360.
Werner's syndrome is an autosomal recessive disorder first described in 1904 and, with an estimated prevalence rate of 1-10 per million population, being more common in Japan and Sardinia.
In progeria and Werner's syndrome most biochemical abnormalities are associated with connective tissue, principally of mesodermal origin.
This compares with 10-20% of glycosaminoglycan content in Werner's syndrome [24].
Cultured cells from patients with Werner's syndrome contain normal levels of superoxide dismutase and glutathione peroxidase [29] and the rate of lipid peroxidation is normal.
Cultured fibroblasts from patients with progeria and Werner's syndrome show a markedly reduced potential for in vitro growth and have a shorter replicative life span compared with control cultures [39].
Recently, an exciting development has been the identification of the gene defect responsible for Werner's syndrome on chromosome 8 [44].
Thus, the occurrence of higher rates of malignancy in this condition and Werner's syndrome are likely to be due to chromosomal abnormalities resulting from reduced cell cycle regulation [50].