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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.
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.
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.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
'''Werner syndrome''' is a very rare, autosomal recessive disorder whose most recognizable characteristic is premature aging. For this reason, Werner syndrome is often referred to as a progeroid syndrome, as it partly mimics the symptoms of Progeria. Individuals with Werner syndrome age rapidly following puberty, so that by the time they reach age 40 they often appear as though they are several decades older. Patients with Werner sydrome also exhibit genomic instability, hypogonadism, and various age-associated disorders; these include cancer, coronary heart disease, atherosclerosis, diabetes mellitus, and cataracts. However, not all characteristics of old-age are present in Werner patients; for instance, senility is not seen in individuals with Werner syndrome. The average age at death of Werner patients is 47, usually as a result of cancer or heart disease. Werner syndrome is an exceedingly rare disorder, with some estimates suggesting that it afflicts approximately 1 in 1,000,000 individuals worldwide. Some populations do seem more suceptible to Werner syndrome. These include individuals of ethnic Japanese descent. In 1996 the gene responsible for Werner syndrome was identified (and named ''WRN'') and found to be a member of the RecQ helicase family of helicases. Other members of this family include the genes responsible for Bloom syndrome (BLM gene), and a subset of Rothmund-Thompson's syndrome (RECQ4 gene) patients. Research into the biological role of the WRN protein is ongoing, but current evidence strongly suggests a role for WRN in the resolution of Holliday junctions. Roles in non-homologous end joining (NHEJ) and the restoration of stalled replication forks have also been suggested. Werner syndrome is named after Otto Werner, a German student who described the syndrome as part of his doctoral thesis in the early 1900's. Category:Eponymous ... [ Read More ]
University of Washington: Werner Syndrome - Images of persons with this disease and diagnostic criteria for WRN and contact information for a central repository of WS data and research and materials.
NORD: Werner Syndrome - Offers alternative names, a general discussion and further resources.
NCBI: Genes and Diseases - Provides a short descriptions of the inherited disorder, Werner syndrome.
Innovita Research Institute - Research on aging, molecular concepts of aging, cloning and age-related diseases such as Alzheimers, Werner syndrome, and Parkinsons.