WordNet

any mature animal
a fully developed person from maturity onward (同)grownup
(of animals) fully developed; "an adult animal"; "a grown woman" (同)big, full-grown, fully grown, grown, grownup
a rare abnormality marked by premature aging (grey hair and wrinkled skin and stooped posture) in a child

PrepTutorEJDIC

『おとなの』,成人した,成熟した / 成人向きの / 『おとな』,成人

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/01/15 09:02:35」(JST)

wiki en

Werner syndrome (WS, also known as "adult progeria"^[1]^:573) is a rare, autosomal recessive^[2] disorder characterized by the appearance of premature aging.^[3] It affects about 1 in 100,000 in Japan, and 1 in 1-10 million outside of Japan.^[4] Werner syndrome more closely resembles accelerated aging than any other segmental progeria, so it is often referred to as a progeroid syndrome, as it partly mimics the symptoms of progeria.

History

Werner 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.

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^[6] and it is the only gene known to be associated with Werner syndrome.^[7] The disease is caused by a mutation in the WRN gene,^[7] (or RECQL2) which codes a DNA helicase that functions 3' 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 six years old.^[7] 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, graying of hair, hoarseness of the voice, thickening of the skin, diabetes mellitus, cataracts, hypogonadism, cancer, and atherosclerosis.^[7] Werner causes a "bird-like" pinch to the nose.^[7]

Death

In people with Werner syndrome, death usually occurs by myocardial infarction or cancer^[7]

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.^[8] 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.^[8]

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 four times faster than normal.

In an early cut scene from the game Metal Gear Solid 4, Hal "Otacon" Emmerich cites "classic Werner syndrome" as the most likely cause of Solid Snake's premature aging, though he goes on to say that testing had been inconclusive.

In season 3 episode 9, "The Ballad of Kevin and Tess", of TV show The 4400, Kevin is said to have Werner syndrome to hide his real condition from the public.

In The Invisible Man (2000 TV series) season 1 episode 6, "Impetus", the new character Gloria has an experimentally altered type of Werner syndrome that causes it to become contagious.

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 (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.
^ 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.
^ . PMID 17478382.
^ synd/892 at Who Named It?
^ 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.
^ ^a ^b ^c ^d ^e ^f Oshima J, Martin GM, Hisama FM (February 2012). Werner Syndrome. PMID 20301687. NBK1514. http://www.ncbi.nlm.nih.gov/books/NBK1514/. In Pagon RA, Bird TD, Dolan CR, et al., ed. (1993–). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/n/gene/TOC/.
^ ^a ^b 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. http://www.fasebj.org/content/24/1/158.short. Retrieved 2011-10-24.

External links

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

Werner syndrome at libero.it
DNA Repair at rcn.com
Segmental Progeria at benbest.com
WRN at the GenAge database.
werner at NIH/UW GeneTests
00421 at CHORUS
Cancer.Net: Werner Syndrome

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 小児における甲状腺結節および癌 thyroid nodules and cancer in children
2. 甲状腺乳頭癌の概要 overview of papillary thyroid cancer
3. 骨肉腫：疫学、病因、臨床症状、診断、および組織学的検査 osteosarcoma epidemiology pathogenesis clinical presentation diagnosis and histology
4. Calcinosis cutis: Etiology and patient evaluation
5. 若年性全身性硬化症（強皮症） juvenile systemic sclerosis scleroderma

English Journal

Medicine. Progeria accelerates adult stem cell aging.

Brunauer R1, Kennedy BK2.
Science (New York, N.Y.).Science.2015 Jun 5;348(6239):1093-4. doi: 10.1126/science.aac4214.
PMID 26045423

Aging stem cells. A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging.

Zhang W1, Li J2, Suzuki K3, Qu J4, Wang P1, Zhou J1, Liu X2, Ren R1, Xu X1, Ocampo A3, Yuan T1, Yang J1, Li Y1, Shi L5, Guan D1, Pan H1, Duan S1, Ding Z1, Li M3, Yi F6, Bai R4, Wang Y5, Chen C1, Yang F1, Li X7, Wang Z8, Aizawa E3, Goebl A9, Soligalla RD3, Reddy P3, Esteban CR3, Tang F10, Liu GH11, Belmonte JC12.
Science (New York, N.Y.).Science.2015 Jun 5;348(6239):1160-3. doi: 10.1126/science.aaa1356. Epub 2015 Apr 30.
Werner syndrome (WS) is a premature aging disorder caused by WRN protein deficiency. Here, we report on the generation of a human WS model in human embryonic stem cells (ESCs). Differentiation of WRN-null ESCs to mesenchymal stem cells (MSCs) recapitulates features of premature cellular aging, a glo
PMID 25931448

Microwave-Assisted Synthesis of a MK2 Inhibitor by Suzuki-Miyaura Coupling for Study in Werner Syndrome Cells.

Bagley MC1, Baashen M2, Chuckowree I3, Dwyer JE4, Kipling D5, Davis T6.
Pharmaceuticals (Basel, Switzerland).Pharmaceuticals (Basel).2015 Jun 3;8(2):257-76. doi: 10.3390/ph8020257.
Microwave-assisted Suzuki-Miyaura cross-coupling reactions have been employed towards the synthesis of three different MAPKAPK2 (MK2) inhibitors to study accelerated aging in Werner syndrome (WS) cells, including the cross-coupling of a 2-chloroquinoline with a 3-pyridinylboronic acid, the coupling
PMID 26046488

Japanese Journal

Primary liver tumor associated with Werner syndrome (adult progeria)

OKANO Hiroshi,ISONO Yoshiaki,TANAKA Hiroki,ISHIHARA Yoshiko,MATSUSAKI Shimpei,AOKI Masatoshi,SASE Tomohiro,SAITOU Tomonori,MUKAI Katsumi,NISHIMURA Akira,TAKEMOTO Minoru,YOKOTE Koutaro
Hepatology research : the official journal of the Japan Society of Hepatology 41(12), 1260-1265, 2011-12-01
NAID 10031144206

大腿四頭筋腱損傷に対し，自家腱を用いた腱補強修復術を行ったＷｅｒｎｅｒ症候群の１例

中村英一,鬼木泰成,工藤智志,前川剛史,水田博志
整形外科と災害外科 56(2), 157-161, 2007
【目的】大腿四頭筋腱損傷に対し，自家腱を用いた腱補強修復術を行ったWerner症候群の1例を経験したので報告する．【症例】57歳，男性．約5年前より両踵部の難治性皮膚潰瘍が出現し，近医を受診．早老性顔貌や白内障などがみられ，Werner症候群と診断された．1年前風呂場で転倒した際，右膝を打撲し，以後歩行不能となったため，当科外来を受診した．大腿四頭筋総腱部に圧痛を認め，また陥凹を触知した．膝自動伸 …
NAID 130004460645

Atypical Osteosarcomas in Werner Syndrome (Adult Progeria)

ISHIKAWA Yuichi,MILLER Robert W,MACHINAMI Rikuo,SUGANO Haruo,GOTO Makoto
Japanese journal of cancer research : gann 91(12), 1345-1349, 2000-12-30
NAID 10008060385

Related Pictures

★リンクテーブル★

リンク元	「ウェルナー症候群」
関連記事	「progeria」「adult」

「ウェルナー症候群」

Werner syndrome
	Classification and external resources
ICD-10	E34.8 (ILDS E34.820)
ICD-9	259.8
OMIM	277700
DiseasesDB	14096
MeSH	C16.320.925
GeneReviews	Werner Syndrome;

　　[★]

英: Werner's syndrome, Werner syndrome
同: Werner症候群、成人型早老症成人早老症 adult progeria

参考

Wikipedia - ウェルナー症候群

http://ja.wikipedia.org/wiki/%E3%82%A6%E3%82%A7%E3%83%AB%E3%83%8A%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4

「progeria」

　　[★] プロジェリア、プロゲリア、早老、早老症

[show details]

プロジェリア : 約 56,300 件
プロゲリア : 約 940 件
早老 : 約 84,100 件
早老症 : 約 52,100 件

プロジェリア progeria : 約 7,000 件
プロゲリア progeria : 71 件
早老 progeria : 約 4,080 件
早老症 progeria : 約 1,610 件

「adult」

　　[★]

n.

成人、成体、大人

adj.

成体型の、成人型の、大人の、成人性の

関: adult human、adult type

[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 (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] . PMID 17478382.

[5] synd/892 at Who Named It?

[6] 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.

[Leis-7] ^ ^a ^b ^c ^d ^e ^f Oshima J, Martin GM, Hisama FM (February 2012). Werner Syndrome. PMID 20301687. NBK1514. http://www.ncbi.nlm.nih.gov/books/NBK1514/. In Pagon RA, Bird TD, Dolan CR, et al., ed. (1993–). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/n/gene/TOC/.

[Massip-8] 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. http://www.fasebj.org/content/24/1/158.short. Retrieved 2011-10-24.

匿名

検索

案内

案内

adult progeria