Werner syndrome

Common Name(s)

Werner syndrome, Werner's syndrome

Werner syndrome is a rare genetic condition that causes accelerated aging. Affected individuals usually display normal growth and development during childhood but then lack a normal growth spurt at puberty. As a result, they are typically short in height. Those with the condition also typically have unique facial features that include a beaked nose and prominent eyes.

Individuals with Werner syndrome usually notice the first signs of rapid aging during their twenties. These first symptoms may include graying or loss of hair, a hoarse voice, and the development of thinner, rougher skin. In the individual’s thirties, more advanced signs of aging will likely begin. These include cloudy eye lenses (cataracts), sores or open wounds on the skin (ulcers), type II diabetes, thinning of bones (osteoporosis), various types of cancer, and a decrease or loss of fertility and other genital functioning (hypogonadism). Most affected individuals pass away in their late forties to early fifties from conditions such as cancer and atherosclerosis (hardening of the arteries).

There is a specific gene, called "WRN," that is associated with this condition. A functional WRN gene instructs the body to produce a protein that is responsible for protecting a person’s DNA from damage and keeping the DNA in its proper shape. If the WRN gene is changed (mutated), the individual’s DNA becomes more prone to damage and leads to the various physical signs of Werner syndrome. This condition is inherited in an autosomal recessive pattern, which means a person must have a mutation in both copies of their WRN gene in order to develop the condition. Contacting a genetic counselor or specialist may be helpful to further explain the genetics and inheritance pattern of this condition.

Unfortunately there is no cure for Werner syndrome at this time. If you or a loved one has been diagnosed with Werner syndrome, contact your doctor to discuss current treatment options.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Werner syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Werner syndrome" returned 171 free, full-text research articles on human participants. First 3 results:

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

Author(s): Weiqi Zhang, Jingyi Li, Keiichiro Suzuki, Jing Qu, Ping Wang, Junzhi Zhou, Xiaomeng Liu, Ruotong Ren, Xiuling Xu, Alejandro Ocampo, Tingting Yuan, Jiping Yang, Ying Li, Liang Shi, Dee Guan, Huize Pan, Shunlei Duan, Zhichao Ding, Mo Li, Fei Yi, Ruijun Bai, Yayu Wang, Chang Chen, Fuquan Yang, Xiaoyu Li, Zimei Wang, Emi Aizawa, April Goebl, Rupa Devi Soligalla, Pradeep Reddy, Concepcion Rodriguez Esteban, Fuchou Tang, Guang-Hui Liu, Juan Carlos Izpisua Belmonte

Journal: Science. 2015 Jun;348(6239):1160-3.

 

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 ...

Last Updated: 5 Jun 2015

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Checkpoint-dependent and independent roles of the Werner syndrome protein in preserving genome integrity in response to mild replication stress.
 

Author(s): Giorgia Basile, Giuseppe Leuzzi, Pietro Pichierri, Annapaola Franchitto

Journal: Nucleic Acids Res.. 2014 Nov;42(20):12628-39.

 

Werner syndrome (WS) is a human chromosomal instability disorder associated with cancer predisposition and caused by mutations in the WRN gene. WRN helicase activity is crucial in limiting breakage at common fragile sites (CFS), which are the preferential targets of genome instability ...

Last Updated: 12 Nov 2014

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The Werner syndrome protein limits the error-prone 8-oxo-dG lesion bypass activity of human DNA polymerase kappa.
 

Author(s): Leena Maddukuri, Amit Ketkar, Sarah Eddy, Maroof K Zafar, Robert L Eoff

Journal: Nucleic Acids Res.. 2014 Oct;42(19):12027-40.

 

Human DNA polymerase kappa (hpol κ) is the only Y-family member to preferentially insert dAMP opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine (8-oxo-dG) during translesion DNA synthesis. We have studied the mechanism of action by which hpol κ activity is modulated by the Werner syndrome ...

Last Updated: 7 Nov 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Werner syndrome" returned 8 free, full-text review articles on human participants. First 3 results:

Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.
 

Author(s): Junko Oshima, Fuki M Hisama

Journal: Gerontology. 2014 ;60(3):239-46.

 

Segmental progeroid syndromes are a group of disorders with multiple features resembling accelerated aging. Adult-onset Werner syndrome (WS) and childhood-onset Hutchinson-Gilford progeria syndrome are the best known examples. The discovery of genes responsible for such syndromes ...

Last Updated: 22 Apr 2014

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Spectrum and risk of neoplasia in Werner syndrome: a systematic review.
 

Author(s): Julia M Lauper, Alison Krause, Thomas L Vaughan, Raymond J Monnat

Journal: PLoS ONE. 2013 ;8(4):e59709.

 

Werner syndrome (WS) is an autosomal recessive genetic instability and progeroid ('premature aging') syndrome which is associated with an elevated risk of cancer.

Last Updated: 10 Apr 2013

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Werner syndrome: a changing pattern of clinical manifestations in Japan (1917~2008).
 

Author(s): M Goto, Y Ishikawa, M Sugimoto, Y Furuichi

Journal: Biosci Trends. 2013 Feb;7(1):13-22.

 

As ~75% of the Werner syndrome (WS) patients recognized between 1904 and 2008 all over the world are of Japanese origin, the most case reports and clinical studies on WS has been published in Japanese journals. Thus, the detailed English-written clinical review on the recent WS case ...

Last Updated: 25 Mar 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.