Genetics of hydatidiform moles and reproductive wastage
Pregnancy and the addition of a new member to the family is often cause for celebration. Unfortunately not all conceptions result in the birth of a live, healthy baby. Half of women trying to conceive experience some forms of embryo loss, with 50% of these occurring before the woman even knows she is pregnant. For those who do achieve clinical pregnancy, there is still the risk of various types of pregnancy loss in the form of spontaneous abortion, ectopic pregnancy, stillbirth, and hydatidiform mole.
Hydatidiform mole, also called molar pregnancy, is an abnormal human pregnancy with no embryo but abnormal excessive proliferation of the trophoblast. This condition is of ancient recognition and its description figures in Hippocrates’s manuals under the name of dropsy of the uterus. The common form of this condition is sporadic and not recurrent. It occurs in 1 in every 250 pregnancies in western countries and at higher frequencies in other geographic regions. By studying a rare familial form of this condition, our group identified a first causative gene, NLRP7, for recurrent moles and associated reproductive wastage.
1. Elucidate the role of the NLRP7 protein in the occurrence of recurrent moles and associated reproductive wastage.
2. Investigate the role of NLRP7 in sporadic moles.
3. Identify a second gene for recurrent moles.
Funding agencies: CIHR, FRSQ, MISRI
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