Scientists confirm gene mutation linked to lupus

February 14, 2014

By NOBUTARO KAJI/ Staff Writer

Japanese researchers have confirmed for the first time an association in mice between a genetic mutation and the intractable autoimmune disease lupus erythematosus.

Systemic lupus erythematosus (SLE) is a condition in which immune cells attack the patient’s organs throughout the body, causing inflammation of the kidneys, skin inflammation, arthritis and other symptoms. Women in their child-bearing years (20-40) are especially prone to the disease.

The research team made up of scientists from Kyoto University, Osaka University and the Riken research institute looked into mice with SLE-like autoimmune symptoms and discovered that they had a mutation in MDA5, an intracellular sensor for viruses. The researchers also discovered that the genetic alteration triggered immune reactions without viral infection in the mice.

The genetic mutation observed in the mice is also known to exist in the body of human SLE patients. The team’s findings were published in the U.S. journal Immunity on Feb. 14.

Although experts have found some other genes that are likely associated with lupus, it was the first time a gene was clearly confirmed to be linked to SLE, the team said.

Currently, more than 60,000 patients are suffering from SLE in Japan, according to health ministry estimates. There is no radical cure for the disease.

“Using the mice, we hope to find an effective treatment,” said Takashi Fujita, a virology professor at Kyoto University’s Institute for Virus Research, who led the research team.

By NOBUTARO KAJI/ Staff Writer
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