Werner Syndrome
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What is Werner syndrome?Werner syndrome is a rare disorder characterized by the dramatic, rapid appearance of aging. Individuals with this syndrome typically grow and develop normally until they reach puberty. The age of onset of Werner syndrome is variable, but an early sign is the lack of a teenage growth spurt, which results in short stature. Other signs and symptoms appear when affected individuals are in their twenties or thirties and include loss and graying of hair, hoarseness, thickening of the skin, and cloudy lenses (cataracts) in both eyes. Overall, people affected by Werner syndrome have thin arms and legs and a thick trunk. As the syndrome progresses, affected people may experience additional skin problems, type 2 diabetes, diminished fertility, severe hardening of the arteries (arteriosclerosis), thinning bones (osteoporosis), and some types of cancer. Affected individuals typically have a characteristic facial appearance described as bird-like by the time they reach their thirties. People affected by Werner syndrome usually live into their late forties or early fifties. How common is Werner syndrome?Werner syndrome is estimated to affect 1 in 200,000 individuals in the United States. In Japan, the syndrome occurs more often, affecting between 1 in 20,000 and 1 in 40,000 people. What genes are related to Werner syndrome?Mutations in the WRN gene cause Werner syndrome. The WRN gene provides instructions for the production of Werner protein. This protein is thought to perform several tasks in the cell, including the maintenance and repair of DNA. It also assists in making copies of DNA (replication) in preparation for cell division. Mutations in the WRN gene often lead to the production of an abnormally short Werner protein. Some research suggests that this shortened protein is not sent to the nucleus, where it normally interacts with DNA. Evidence also suggests that the altered protein is broken down quickly in the cell, leading to a loss of Werner protein function. Researchers do not fully understand how WRN mutations cause this syndrome. Cells with an altered Werner protein may divide less often than normal, leading to growth failure. Also, the altered protein may allow DNA damage to accumulate, which could impair normal cell activities and cause health problems related to this condition. How do people inherit Werner syndrome?This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.
Source: National Institutes of Health
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Research on genetics & genomics described by scientists at National Institutes of Health
2007 MAR 26 -- A report, "The role of WRN in DNA repair is affected by post-translational modifications," is newly published data in Mechanisms of Ageing and Development. "Werner syndrome (WS) is an autosomal recessive progeroid disease characterized by genomic instability. WRN gene encodes one of the RecQ helicase family proteins, WRN, which has ATPase, helicase, exonuclease and single stranded DNA annealing activities," researchers in the United States report. "There is accumulating evidence suggesting that WRN contributes to the maintenance of genomic integrity through its involvement in DNA repair, replication and recombination. The role of WRN in these pathways can be modulated by its post-translational modifications in response to DNA damage," wrote R. Kusumoto and colleagues, National Institutes of Health. The researchers concluded: "Here, we review the functional consequences of post-translational modifications on WRN as well as specific DNA repair pathways where WRN is involved and discuss how these modifications affect DNA repair pathways." Kusumoto and colleagues published their study in Mechanisms of Ageing and Development (The role of WRN in DNA repair is affected by post-translational modifications. Mechanisms of Ageing and Development, 2007;128(1):50-7). For additional information, contact R. Kusumoto, National Institutes of Health, Laboratory of Molecular Gerontology, National Institute on Aging, 5600 Nathan Shock Drive, Baltimore, MD 21224 USA. Publisher contact information for the journal Mechanisms of Ageing and Development is: Elsevier Science Ireland Ltd., Customer Relations Manager, Bay 15, Shannon Industrial Estate, Co. Clare, Ireland. Keywords: United States, Baltimore, Genetics & Genomics, DNA, Genetics, Genomics. This article was prepared by Proteomics Weekly editors from staff and other reports. Copyright 2007, Proteomics Weekly via NewsRx.com.
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