This condition was first described by Dr. Otto Werner at the University of Kiel, Germany, in 1904 when he was a medical student. He noticed features of skin tightness and thickening as well as cataracts in more than one child born in the same family.
Many symptoms are things that happen normally to people as they age, so this has been called a premature aging syndrome. Individuals with this condition are often shorter than their family members. Most symptoms are not apparent until they are 20 years old. The skin changes described above along with bone thinning, hardening of the arteries, Type II diabetes mellitus and cataracts are common. These individuals are also at higher risk for cancer. Most people with this condition die in their late forties. The most frequent causes of death are heart attacks from coronary artery atherosclerosis and cancer.
People with Werner Syndrome are treated for their various symptoms (cataracts are removed, heart disease is treated, etc.). There is no known cure for the condition.
Werner Syndrome is a genetic condition. It is caused by a change, or mutation, in the genetic material that is passed on from parents to children.
We have a set of instructions, called genes, that tell our bodies how to function. We get half of our genes from our mother and half from our father. We normally have two copies of each gene, one from each parent. In order to get Werner Syndrome, there has to be a mutation in both copies of the Werner Syndrome gene (as it is a recessive trait). If someone has Werner Syndrome, each parent had one normal copy of the Werner Syndrome gene and one mutated copy (people with one normal gene and one mutated gene are called “carriers”), and each passed on the mutated gene to the child.
When both parents are carriers, the chances that one of their children will have Werner Syndrome is 25%. In other words, an average of one child out of four born to the couple would inherit both copies of the mutated Werner Syndrome gene, and would have Werner Syndrome.
We have now identified the specific gene that is changed in Werner Syndrome and know some of the ways that it normally functions in our bodies. The gene symbol is WRN (pronounced “vern”) and encodes a protein called the Werner protein. Since one function of the protein is as a DNA helicase (unwinds the DNA helix for replication or repair) it has also been called RECQL2. This gene is located on the short arm of chromosome 8 (8p12-11.2).
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