Werner

Werner syndrome (also known as "adult progeria") is a rare, autosomal recessive disorder which is characterized by the appearance of premature aging. Werner's syndrome is named after the German scientist, Otto Werner. He identified the syndrome in four siblings from a family in Germany in the early 20th century.

Symptoms

The symptoms of Werner syndrome include early graying and loss of hair, cataracts, skin changes and a short stature. The skin changes that are often observed include tight skin, scleroderma, skin ulcers and atrophy. The voice of an individual with Werner syndrome often has a high pitch.

Causes

Werner syndrome is caused by mutations in the WRN gene. This gene provides instructions for producing a member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands of a DNA molecule, which is necessary for DNA replication and repair.

Diagnosis

Diagnosis of Werner syndrome can be challenging, as the symptoms often resemble those of normal aging. However, the presence of symptoms at an unusually young age may suggest Werner syndrome. Genetic testing can confirm a diagnosis.

Treatment

There is currently no cure for Werner syndrome. Treatment is focused on managing the symptoms and may include surgery to remove cataracts, treatment for diabetes, and skin care for ulcers.

See also

• Progeria
• Hutchinson-Gilford progeria syndrome
• Cockayne syndrome

References

Template:Genetic disorder

NIH genetic and rare disease info

• NIH info on Werner

Werner is a rare disease.

Template:Aging-associated diseases

Werner Resources
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