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Genetic defect tied to autoimmune diseases

Rare mutations lead to several different disorders

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6:35pm, June 16, 2010

Rare variations in a single gene can lead to a wide variety of autoimmune disorders, including diabetes, lupus and rheumatoid arthritis, a new study shows.

The gene in question encodes an enzyme called sialic acid acetylesterase or SIAE, which regulates the activity of the immune system’s antibody-producing B cells. About 2 percent to 3 percent of people with autoimmune disorders have defects in the enzyme that allow B cells to run amok and make antibodies that attack the body, a team led by Shiv Pillai of Massachusetts General Hospital in Charlestown and Harvard Medical School reports online June 16 in Nature.

“It’s a seminal paper because it is so applicable to a wide variety of autoimmune diseases, says Judy Cho, a Yale geneticist not associated with the study. The finding suggests that enhancing the enzyme’s activity could help treat disease in people with autoimmune disorders. 

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