Werner syndrome: Difference between revisions

Werner syndrome
Werner syndrome
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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.

History

Werner's syndrome is named after Otto Werner,^[4] a German scientist, who, as a student, described the syndrome as part of his doctoral thesis in 1904.

Genetics

Werner syndrome has an autosomal recessive pattern of inheritance.

Werner syndrome is an autosomal recessive disorder.^[2] The WRN gene associated with Werner Syndrome lies on chromosome 8 in humans^[5] and it is the only gene known to be associated with Werner syndrome.^[6] The disease is caused by a mutation in the WRN gene^[6] (or RECQL2), which codes a DNA helicase that functions 3' $\to$ 5' as well as base exertion properties that also function in the same direction. Increased telomere attrition and genomic instability have been observed in Werner syndrome, and rapid telomere decay is thought to play a causal^{[verification needed]} role in the clinical and pathological manifestations of the disease. The process by which the mutant WRN gene promotes telomere instability is unknown.

Onset

Although the symptoms manifest after 10 years, the earliest person diagnosed was 6 years old.^[6] Following puberty they age rapidly, so that by age 40 they often appear several decades older.

Symptoms

The signs of Werner syndrome are: lack of teenage growth spurt,^[6] graying of hair,^[6] hoarseness of the voice,^[6] thickening of the skin,^[6] diabetes mellitus,^[6] cataracts,^[6] hypogonadism,^[6] cancer,^[6] and atherosclerosis.^[6] Werner causes a "bird-like" pinch to the nose.^[6]

Death

In people with Werner syndrome, death usually occurs by myocardial infarction or cancer^[6]

Treatment

A study published in 2010 found that mice genetically modified to express genes thought to cause Werner syndrome in humans had their age-related abnormalities reversed and lifespan increased to normal when vitamin C was put in their drinking water.^[7] These results indicate Vitamin C might help people with Werner syndrome.^[7]

Popular culture

On the episode "Stargazer in a Puddle" from the series Bones, the victim had Werner syndrome.

Werner syndrome was featured in the film Jack, starring Robin Williams, in which his character aged 4 times faster than normal.

In one of the earliest cut scenes in the game Metal Gear Solid 4 Hal "Otacon" Emmerich cites "classic Werner syndrome" as the most likely cause of Solid Snake's premature aging.

References

^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^ ^a ^b 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. {{cite journal}}: 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. {{cite journal}}: Unknown parameter |month= ignored (help); replacement character in |pages= at position 4 (help)CS1 maint: multiple names: authors list (link)
^ synd/892 at Who Named It?
^ 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. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ Leistritz, F. NCBI. Werner Syndrome. Retrieved Jun 2, 2011, from http://www.ncbi.nlm.nih.gov/books/NBK1514/
^ ^a ^b 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

[Andrews-1] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

[aur-2] 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. {{cite journal}}: Unknown parameter |month= ignored (help)

[3] 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. {{cite journal}}: Unknown parameter |month= ignored (help); replacement character in |pages= at position 4 (help)CS1 maint: multiple names: authors list (link)

[4] synd/892 at Who Named It?

[5] 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. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)

[Leis-6] ^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ Leistritz, F. NCBI. Werner Syndrome. Retrieved Jun 2, 2011, from http://www.ncbi.nlm.nih.gov/books/NBK1514/

[Massip-7] 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

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@@ Line 32: / Line 32: @@
 Although the symptoms manifest after 10 years, the earliest person diagnosed was 6 years old.<ref name="Leis">Leistritz, F. NCBI. Werner Syndrome. Retrieved Jun 2, 2011, from http://www.ncbi.nlm.nih.gov/books/NBK1514/</ref> Following puberty they age rapidly, so that by age 40 they often appear several decades older.
 ==Symptoms==
-The signs of Werner syndrome are: lack of teenage growth spurt,<ref name="Leis" /> graying of hair,<ref name="Leis" /> hoarseness of the voice,<ref name="Leis" /> thickening of the skin,<ref name="Leis" /> [[diabetes mellitus]],<ref name="Leis" /> [[cataract]]s,<ref name="Leis" /> [[hypogonadism]],<ref name="Leis" /> [[cancer]],<ref name="Leis" /> and [[atherosclerosis]].<ref name="Leis" /> Werner causes a "bird-like" pink to the [[human nose|nose]].<ref name="Leis" />
+The signs of Werner syndrome are: lack of teenage growth spurt,<ref name="Leis" /> graying of hair,<ref name="Leis" /> hoarseness of the voice,<ref name="Leis" /> thickening of the skin,<ref name="Leis" /> [[diabetes mellitus]],<ref name="Leis" /> [[cataract]]s,<ref name="Leis" /> [[hypogonadism]],<ref name="Leis" /> [[cancer]],<ref name="Leis" /> and [[atherosclerosis]].<ref name="Leis" /> Werner causes a "bird-like" pinch to the [[human nose|nose]].<ref name="Leis" />
 ==Death==