Werner syndrome

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 disorder characterized by the appearance of premature aging.

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, 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. The gene associated with Werner Syndrome lies on chromosome 8 in humans.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.

File:Autorecessive.svg

Natural history, Complications and Prognosis

• Although the symptoms manifest after 10 years, the earliest person diagnosed was six years old. 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

Associated Disorders

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

• Cancer
• heart disease
• Atherosclerosis
• Diabetes mellitus
• Cataracts

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. 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.

See also

• Accelerated aging disease
• Biogerontology
• Cockayne syndrome
• DNA repair
• Degenerative disease
• Genetic disorder
• Life extension
• Progeria
• Senescence
• Xeroderma pigmentosum

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
• Template:Chorus

References

Template:DNA repair-deficiency disorder