Werner Syndrome Bibliography

Werner Syndrome Questions

Werner's Syndrome

by Sarah C, Lauren S, Emily W, Olivia B, and Elizabeth S

How is this disorder inherited?

Werner's Syndrome can be inherited when both parents have the WRN gene mutation, however they might not show symptoms. When both genes are mutated, it is called an autosomal recessive pattern.

What type of mutation causes this disorder?

Mutations in the WRN gene cause Werner syndrome. This gene gives instructions for producing the Werner protein. This protein assists in the process of replicating DNA in preparation for cell division. It also plays a critical role in repairing damaged DNA. Still, researchers do not fully understand how WRN gene mutations cause the signs and symptoms of Werner’s syndrome. An altered Werner protein may cause the cell to stop dividing, causing growth problems. Also, it could impair normal cell activities and cause the health problems associated with this condition.

The WRN gene is located on the short arm of Chromosome 8 at position 12 (shown in the diagram below.)


What are some characteristics of this disorder?


Some characteristics of this disorder are:
  • Extreme premature signs of aging
    • Hair loss
    • Greying of hair
    • Thin paper-like skin
    • Thin arms and legs
After the disease progresses more characteristics are revealed:
  • Skin ulcers
  • bad vision
  • bone thinning (osteoporosis)
  • 'bird-like' face

It is also more common for people with Werner's syndrome to have many rare cancers.
Cancer, along with osteoporosis, heart attacks, and diabetes are usually the causes of death in individuals with Werner's syndrome.
People with this syndrome, on average live for forty to fifty years.

Have any medical advancements been developed to treat or prevent this disorder?

Aggressive treatment of skin ulcers, surgical treatment of ocular cataracts, treatment of malignancies, control of Type II diabetes mellitus, and cholesterol-lowering drugs (if patient has an abnormal lipid profile) are all medical advancements in treating Werner's syndrome. These numerous treatments are usually accompanied by standard therapies. To prevent cancer, diabetes, and other associated diseases, early diagnosis is useful so that screening and genetic counseling can be done on a regular basis.

Scientists are trying to restore the normal WRN function in cells from a Werner's syndrome patient in hopes that the molecular defects may be corrected. But until that is possible, no cure for Werner's syndrome currently exists.

More Facts
  • Werner Syndrome is slightly more common in Japan, affecting approximately 1 in 20,000 births to 1 in 40,000 births. In the US, Werner syndrome approximately 1 in 200,000 births.
  • Werner Syndrome is also called adult progeria, Progeriod Syndrome, and adult premature aging syndrome.
  • Werner disease is named after Otto Werner, a German scientist who wrote about the rare hereditary disease in a 1904 doctoral thesis.
  • The parents must both be carriers of the mutated WRN gene in order for their offspring to be affected by Werner Syndrome but in most cases, the parents do not show any signs of Werner Syndrome.