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Gene for Familial Mediterranean Fever Found

By Elia Ben-Ari

An international consortium of researchers, led by investigators at NIAMS and including NHGRI scientists, has for the first time identified the gene for familial Mediterranean fever (FMF) and found three different gene mutations that cause this inherited rheumatic disease. The gene holds the code for making a protein the researchers call pyrin. They hypothesize that pyrin normally plays a role in keeping inflammation under control, and that mutations in the gene lead to a malfunctioning protein and uncontrolled inflammation.

Discovery of the gene mutations, published in the Aug. 22 issue of Cell, "will allow immediately a simple diagnostic blood test for FMF," says lead researcher Dr. Daniel L. Kastner, who heads a lab in NIAMS's Arthritis and Rheumatism Branch. "One reason that's important is that in the U.S. physicians are often unfamiliar with FMF. Now it will be possible to develop a simple diagnostic test for FMF that could be used in patients with unexplained, recurring fevers."

Researchers hope that studying how pyrin works will ultimately lead to new, improved treatments for FMF and perhaps for other diseases involving excess inflammation.

People with FMF suffer from recurring bouts of fever, most commonly with severe abdominal pain due to inflammation of the abdominal cavity (peritonitis). Attacks can also include arthritis (painful, swollen joints), chest pain from inflammation of the lung cavity (pleurisy), and skin rashes. Some patients develop amyloidosis, a potentially deadly buildup of protein in vital organs such as the kidneys. The only treatment for FMF is a drug called colchicine, which patients have to take every day for life and which causes side effects such as diarrhea and abdominal cramps.

Researchers Discover First Animal Strain of Hepatitis E Virus

By John Bowersox

Scientists at the National Institute of Allergy and Infectious Diseases have identified a strain of hepatitis E virus in pigs that is very similar to the strain that causes disease in humans. However, there is no evidence that the pig virus causes disease in either humans or pigs. The finding, published in the Sept. 2 issue of the Proceedings of the National Academy of Sciences, should help advance studies of hepatitis E disease in humans and eventually could lead to the development of a vaccine.

"This is a very interesting finding that will open new avenues of research, and contribute to strategies to treat or prevent hepatitis E disease," said Dr. Robert H. Purcell, chief of the hepatitis viruses section in the Laboratory of Infectious Diseases and senior author of the study. "Unlike hepatitis A, B and C, hepatitis E disease almost never occurs in the United States. However, epidemics of the disease do occur periodically in developing nations in Africa and Asia."

Hepatitis E virus is most commonly transmitted to people through contaminated drinking water in areas with poor sanitation. The disease generally affects young adults and usually is not life-threatening, except in pregnant women infected with the virus where fatality rates of 15 to 20 percent have been reported.

According to the Centers for Disease Control and Prevention, virtually all cases of acute hepatitis E in the United States have occurred among travelers returning from areas where hepatitis E disease is endemic. Nevertheless, recent studies have shown that upwards of 20 percent of healthy people in this country -- even those who have not traveled abroad -- have antibodies to hepatitis E virus or related agents in their blood.

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