Gene Mutations Offer Clues to Common Complication of Pregnancy

TUESDAY March 22, 2011 -- Researchers who have spotted specific genetic mutations associated with preeclampsia in women with certain autoimmune diseases say their findings may eventually lead to new tests and treatments.

Preeclampsia -- a dangerous condition marked by protein in the urine and high blood pressure during pregnancy -- complicates 4 percent to 5 percent of all pregnancies worldwide. If untreated, it threatens the health and lives of both mothers and babies.

Women with the autoimmune diseases systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS) are at increased risk for preeclampsia. This study included 250 pregnant women with either lupus or APS. Thirty of the women developed preeclampsia during the study, and 10 more had experienced preeclampsia during a previous pregnancy.

The researchers focused on specific genes [complement regulatory proteins membrane cofactor protein, or MCP, factor I and factor H] and found that seven of the 40 women had a mutation in one of these genes.

In addition, mutations in MCP or factor I were found in five of 59 women who did not have an autoimmune disease but who developed preeclampsia.

"Our findings underscore the important role of complement activation in preeclampsia, define mutations and likely mechanisms for increased risk in patients with SLE and/or APS, and suggest new targets for treatment of this important public health problem that, thus far, has defied reliable prediction and satisfactory intervention," wrote Jane Salmon, a rheumatologist at the Hospital for Special Surgery in New York City, and colleagues.

The study appears in this week's issue of PLoS Medicine.

More information

The U.S. National Institute of Child Health and Human Development has more about preeclampsia.

Posted: March 2011


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