Werner syndrome

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Werner syndrome
ICD-9 259.8
OMIM 277700
DiseasesDB 14096
MeSH C16.320.925

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-In-Chief: Raviteja Guddeti, M.B.B.S. [2]

Keywords and synonyms: Progeroid syndrome

Overview

Werner Syndrome (WRN) is a very rare, autosomal recessive[1] disorder characterized by the appearance of premature aging.[2]

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

Historical perspective

Werner's syndrome is named after Otto Werner,[3] a German scientist, who, as a student, described the syndrome as part of his doctoral thesis in 1904.

Pathophysiology

Werner syndrome is an autosomal recessive disorder.[1] The gene associated with Werner Syndrome lies on chromosome 8 in humans.[4]The defect is on a gene that codes DNA helicase and it is located on the short arm of the 8th chromosome. The disorder is directly caused by shorter than normal length telomere maintenance. As a result DNA replication is impaired.

Werner syndrome has an autosomal recessive pattern of inheritance.

Natural history, Complications and Prognosis

  • Although the symptoms manifest after 10 years, the earliest person diagnosed was six years old.[5] Following puberty, they age rapidly, so that by age 40, they often appear several decades older.
  • In people with Werner syndrome, death usually occurs by myocardial infarction or cancer[5]

Associated Disorders

Patients with Werner syndrome also exhibit genomic instability, hypogonadism, and various age-associated disorders which include:

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.

Diagnosis

Symptoms

  • Rapid aging - 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.
  • Short stature - early sign in Werner syndrome is the lack of a teenage growth spurt, which results in short stature.
  • Loss and graying of hair
  • Hoarseness of the voice
  • Thickening of the skin
  • Cloudy lenses (cataracts) in both eyes.

Physical examination

  • Affected individuals typically have a characteristic facial appearance described as "bird-like" by the time they reach their thirties.
  • Short stature
  • Thin arms and legs
  • Thick torso

Treatment

In 2010, vitamin C supplementation was found to reverse the premature aging and several tissue dysfunctions in a genetically modified mouse model of the disease. Vitamin C supplementation also appeared to normalize several age-related molecular markers such as the increased levels of the transcription factor NF-κB. Vitamin C decreases activity of genes activated in human Werner syndrome, and increases gene activity involved in tissue repair.[6] Vitamin C supplementation is suspected to be beneficial in the treatment of human Werner syndrome, although there was no evidence of anti-aging activity in nonmutant mice.[6]


See also


External links

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

References

  1. 1.0 1.1 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.
  2. 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.
  3. synd/892 at Who Named It
  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. 5.0 5.1 Leistritz, F. NCBI. Werner Syndrome. Retrieved Jun 2, 2011, from http://www.ncbi.nlm.nih.gov/books/NBK1514/
  6. 6.0 6.1 Massip, L.; Garand, C.; Paquet, E. R.; Cogger, V. C.; O'Reilly, J. N.; Tworek, L.; Hatherell, A.; Taylor, C. G.; Thorin, E.; Zahradka, P.; Le Couteur, D. G.; Lebel, M. (2009-09-09). "Vitamin C restores healthy aging in a mouse model for Werner syndrome". The FASEB Journal 24 (1): 158–172. doi:10.1096/fj.09-137133. Retrieved on 2011-10-24.


de:Werner-Syndromko:워너 증후군

it:Sindrome di Wernersr:Вернеров синдром fi:Wernerin syndrooma



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