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Werner syndrome
Classification and external resources
ICD-9 259.8
OMIM 277700
DiseasesDB 14096
MeSH C16.320.925

Werner Syndrome (WS) (also known as "Adult progeria"[1]:573) is a very rare, autosomal recessive[2] disorder characterized by the appearance of premature aging.[3]

Werner's syndrome more closely resembles accelerated aging than any other segmental progeria. For this reason, Werner syndrome is often referred to as a progeroid syndrome, as it partly mimics the symptoms of Progeria.

Contents

Pathophysiology

The disease is caused by a mutation in the WRN gene, which codes a DNA helicase. Increased telomere attrition and genomic instability have been observed in Werner syndrome, and rapid telomere decay is thought to play a causal role in the clinical and pathological manifestations of the disease. The process by which the mutant WRN gene promotes telomere instability is unknown.yes it is very unknown it kills people and it is a meany thing.

Symptoms

Individuals with this syndrome typically develop normally until they reach puberty. Following puberty they age rapidly, so that by age 40 they often appear several decades older. 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 of the voice, 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 torso.

Affected individuals typically have a characteristic facial appearance described as "bird-like" by the time they reach their thirties. Patients with Werner syndrome also exhibit genomic instability, hypogonadism, and various age-associated disorders; these include cancer, 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. People affected by Werner syndrome usually do not live past their late forties or early fifties, often dying from the results of cancer or heart disease.

Genetics

Werner syndrome has an autosomal recessive pattern of inheritance.

Werner syndrome is an autosomal recessive disorder.[2] The gene associated with Werner Syndrome lies on chromosome 8 in humans.[4]

History

Werner's syndrome is named after Otto Werner,[5] a German scientist, who, as a student, described the syndrome as part of his doctoral thesis in 1904.

Treatment

A study published in 2010 [6] found that mice genetically modified to express genes thought to cause Werner syndrome in humans were restored to normal health and lifespan when vitamin C was put in their drinking water. While this is a suggestive result, no published research presently exists confirming the efficacy of oral vitamin C in humans with Werner syndrome or other progeria like conditions.

See also

References

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
  2. ^ a b Ozgenc A, Loeb LA (Sep 2005). "Current advances in unraveling the function of the Werner syndrome protein". Mutation research 577 (1-2): 237–51. doi:10.1016/j.mrfmmm.2005.03.020. PMID 15946710. 
  3. ^ Gray MD, Shen JC, Kamath-Loeb AS, Blank A, Sopher BL, Martin GM, Oshima J, Loeb LA (Sep 1997). "The Werner syndrome protein is a DNA helicase". Nature genetics 17 (1): 100�"3. doi:10.1038/ng0997-100. PMID 9288107. 
  4. ^ Goto M, Rubenstein M, Weber J, Woods K, Drayna D (Feb 1992). "Genetic linkage of Werner's syndrome to five markers on chromosome 8". Nature 355 (6362): 735–8. doi:10.1038/355735a0. PMID 1741060. 
  5. ^ synd/892 at Who Named It?
  6. ^ Laurent Massip, Chantal Garand, Eric R. Paquet, Victoria C. Cogger, Jennifer N. O'Reilly, Leslee Tworek, Avril Hatherell, Carla G. Taylor, Eric Thorin, Peter Zahradka, David G. Le Couteur, and Michel Lebel. Vitamin C restores healthy aging in a mouse model for Werner syndrome. The FASEB Journal, 2010; 24 (1): 158

External links

This article incorporates public domain text from The U.S. National Library of Medicine

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