Gene for pregnancy disorder identified

Potentially deadly preeclampsia—which affects approximately five percent of all pregnancies worldwide—may be triggered by a defective COMT enzyme, say researchers at Beth Israel Deaconess Medical Center. The COMT (catechol-O-methyltransferase) gene is already known for its role in schizophrenia.

The researchers knew that placental oxygen shortage (hypoxia) is a key characteristic of preeclampsia. That shortage helps with the formation of new blood vessels in the first trimester, but is supposed to diminish as the pregnancy progresses. COMT facilitates this process by breaking down estrogen into 2ME (2-methoxyestradiol), which suppresses hypoxia.

The researchers found that in pregnant women with preeclampsia, COMT levels were deficient and 2-ME levels were lower than they should be. The good news is that, in future, maternal and fetal deaths could be averted by checking for COMT defects and supplementing 2-ME levels.

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