A rare autosomal recessive disorder of considerable biomedical interest because patients exhibit an accelerated development of several major disorders commonly found in older individuals.
These include atherosclerosis, cancer, osteoporosis, type 2 diabetes mellitus and ocularcataracts. The elucidation of its pathogenesis may also provide a better and understanding of aspects of the biology of aging. The International Registry of Werner Syndrome provides a central repository for data and materials in order to advance the progress of research and education relevant to this disorder.
The Registry is located in the Department of Pathology, University of Washington, Seattle, Washington. It is directed by George M. Martin, M.D. and Junko Oshima, M.D., Ph.D..
Werner Syndrome was first described by Dr. Otto Werner at the Kiel University in 1904 (Werner, 1904). In his thesis, Dr. Werner described scleroderma-like skin and cataracts in a sibship. Because this disorder shares some aspects of aging as described for two Japanese-American sisters, WS has been described as the "caricature of aging" (Epstein et al., 1966).
Symptoms of some aging disorders, such as Hutchinson-Gilford progeria, may start to develop as early as infancy (Brown et al., 1985). In contrast, WS patients usually develop normally until they lack the pubertal growth spurt during adolescence, a symptom often recognized only retrospectively. Previous studies indicate that, although patients suffer a wide variety of age-related disorders, the chronology of symptoms appear to be similar between Caucasian and Japanese WS patients (Epstein et al., 1966; Goto et al., 1997).
Individuals with the WRN null mutations prematurely develop an aged- appearance and age-related disorders including graying of the hair, hair loss, tight skin, cataracts, diabetes mellitus, hypogonadism, osteoporosis, atherosclerosis and cancers (Epstein et al., 1966; Martin et al., 1978; Tolesfbol and Cohen, 1984; Goto et al., 1997). The average age of clinical diagnosis of this syndrome is in the late thirties, and death usually occurs before the age of 55. The most common cause of death is cancer, followed by a vascular disease such as atherosclerosis (both myocardial and cerebrovascular).
For a detailed discussion of clinical symptoms and diagnosis, please see Gene Reviews.
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