Werner syndrome
| Werner syndrome | ||
| ICD-9 | 259.8 | |
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| 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]
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, Werner syndrome is often referred to as a progeroid syndrome, as it partly mimics the symptoms of Progeria.
History
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 onchromosome 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.
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]
- ↑ 1.0 1.1 Ozgenc A, Loeb LA (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. Unknown parameter
|month=ignored (help) - ↑ Gray MD, Shen JC, Kamath-Loeb AS, Blank A, Sopher BL, Martin GM, Oshima J, Loeb LA (1997). "The Werner syndrome protein is a DNA helicase". Nature genetics. 17 (1): 100�"3. doi:10.1038/ng0997-100. PMID 9288107. Unknown parameter
|month=ignored (help); replacement character in|pages=at position 4 (help) - ↑ Template:WhoNamedIt
- ↑ Goto M, Rubenstein M, Weber J, Woods K, Drayna D (1992). "Genetic linkage of Werner's syndrome to five markers on chromosome 8". Nature. 355 (6362): 735–8. doi:10.1038/355735a0. PMID 1741060. Unknown parameter
|month=ignored (help) - ↑ 5.0 5.1 Leistritz, F. NCBI. Werner Syndrome. Retrieved Jun 2, 2011, from http://www.ncbi.nlm.nih.gov/books/NBK1514/