Researchers with the National Institutes of Health have found susceptibility to Behcet's disease, a painful, inflammatory condition, to be associated with genes involved in the body's immune response.
Although the Greek physician Hippocrates described Behcet's disease (pronounced BET'-chet's), more than 2,000 years ago, the condition existed in relative obscurity until the early 20th century. Named for the Turkish physician who first classified it in 1937, Behcet's disease is found almost exclusively in populations with origins along the Silk Road, a trading route that stretched from Europe to the Far East. Marco Polo was among the most famous travelers along the Silk Road.
This distinctive distribution led researchers to suspect that the disease has a hereditary component, though they determined that a definitive genetic cause is unlikely due to the complexity of disease inheritance. Further investigation of the interleukin 10 (IL10) gene associated with immune response, showed that people with two copies of the Behcet's disease IL10 gene produced significantly lower levels of IL-10 protein than people with only one or no IL10 disease gene. The findings appear online in the current issue of the journal Nature Genetics.
Today, despite advances in genetics and genomics research, the diagnosis of Behcet's disease is still determined by the clinical picture, characterized by painful ulcers affecting the mouth and genitals and inflammation of the skin and eyes. Recurrent inflammatory attacks affecting the eyes may result in permanent loss of vision, and inflammation of the brain and large blood vessels may be associated with increased mortality. In addition, treatments for the disease target individual symptoms rather than addressing an underlying mechanism.
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