Werner Syndrome Health Article

Definition

Werner syndrome is a very rare, inherited disease that resembles premature aging. Since the gene responsible was discovered in the mid-1990s, Werner syndrome has greatly interested researchers as a possible model for the study of human aging. It is also being extensively studied for insights it may eventually supply into a number of other diseases including cancer, diabetes mellitus, and atherosclerosis.

Description

This syndrome is named for the German physician C. W. Otto Werner (1879-1936). Werner was a medical student in 1903 when he first observed the syndrome in four siblings, all about 30 years of age. The following year, Werner wrote about these observations in his "Inaugural Dissertation."

The clinical signs and symptoms of Werner syndrome start to appear during the teen or early adult years, after which patients appear to age rapidly and have a greater-than-usual chance of developing cancer, cardiovascular disease, or diabetes mellitus. By the time the patient is 30–40 years old, he or she has the look of old age. The most common cause of death is heart attack.

While in many ways the signs and symptoms of Werner syndrome resemble those of premature aging (referred to in adults as progeria), there are also some significant differences. For instance, the tumors commonly seen in Werner syndrome patients are commonly derived from the cells of the mesoderm, a middle layer of the embryo that gives rise to a variety of tissues including cartilage, muscle, bone, kidneys, and connective tissue. In normal aging, tumors are more likely to be derived from the epithelial cells that cover the body's exterior and line most of its hollow structures. Osteoporosis and soft-tissue calcium deposits are found both in Werner syndrome and normal aging, but the distribution of these conditions within the body is different in patients with Werner syndrome. In addition, patients with Werner syndrome do not generally experience symptoms of Alzheimer disease or premature cognitive decline, as do their aging counterparts in the general population.

Researchers are uncertain whether the symptoms of Werner syndrome are really a speeding-up of normal aging, or whether the many similarities are coincidental. There is nonetheless considerable optimism that further research into Werner syndrome may lead to a better understanding of aging, cancer, diabetes, systemic sclerosis, atherosclerosis, cataracts, and other conditions.