written by: Leigh A. Zaykoski•edited by: Leigh A. Zaykoski•updated: 9/26/2009
Werner syndrome is a genetic disease also known as adult progeria. In this disease, the features of normal aging appear rapidly during a person's twenties. Learn about what causes this condition and the treatment of Werner syndrome in this comprehensive guide.
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According to the Genetics Home Reference, an online publication of the U.S. National Institutes of Health, 1 out of every 200,000 people in the United States is affected by this condition. This syndrome occurs more commonly in Japan, where it occurs in 1 out of 20,000 to 1 out of 40,000 people.
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This condition is caused by a mutation of the WRN gene. This gene is responsible for the production of the Werner protein, which is related to the repair and maintenance of DNA. The Werner protein also helps copy DNA when cells are preparing to divide. When this gene has a mutation, the Werner protein is short and does not function normally. Each of the parents of someone who has this condition carry one copy of the mutated WRN gene, but they usually do not display any symptoms of Werner syndrome.
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Signs & Symptoms
Someone with this condition may develop normally in childhood and adolescence. Once the person reaches their twenties, they may take on the appearance of someone much older. Characteristics of aging, such as gray hair, thinning of the skin and hair loss, begin to appear. Werner syndrome may also cause someone to experience the normal diseases of aging at a much younger age. These diseases include cataracts, osteoporosis, hardening of the arteries, skin ulcers and some cancers. People with this syndrome are usually of short stature because of how the genetic mutation affects DNA.
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Treatment of Werner Syndrome
Unfortunately, there is no specific treatment for Werner syndrome. The symptoms of each individual case are treated to improve quality of life and lengthen the lifespan of someone with the condition. Treatments for each symptom may involve medications or surgical intervention. These treatments are more effective when a person is diagnosed early so that medical care providers can recommend preventive measures and screen for cancers and other diseases associated with this condition.
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People with this condition usually do not live past their forties or fifties. This is because they contract deadly cancers or die from atherosclerosis. Early diagnosis is the best way to improve the prognosis for someone with this condition. While some of the consequences of this condition cannot be completely prevented, catching them early can help make treatments more successful.