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New MUHC study identifies pregnancy disorder gene

Help may be on the way for a rare but significant pregnancy disorder, thanks to new findings from researchers at the Research Institute of the MUHC. Their study has identified the genetic cause underlying a condition called "molar pregnancy," a pregnancy that has no embryo and may develop into cancer. Their findings, published in next month's issue of Nature Genetics, are the first to link a particular gene with this disorder.

"We believe that the NALP7 gene, which is involved in inflammation, plays a role not only in repeated molar pregnancies but also in other forms of reproductive failure such as spontaneous abortions and stillbirths," says MUHC geneticist Rima Slim. "Our findings will open new avenues of research to better understand the genetic basis of various forms of reproductive failure." Dr. Slim is also an assistant professor in the McGill Faculty of Medicine in the departments of Human Genetics and Obstetrics-Gynecology and senior author.

Dr. Slim and her collaborators were the first to study the familial form of this condition and locate the causative gene to chromosome 19. Now, six years later, they have identified five different mutations in the NALP7 gene in patients with repeated molar pregnancies. This gene was not mutated in the unaffected women. "We do not know where the gene product is needed but women with the NALP7 mutations all had normal ovulation," says Slim.

Molar pregnancies affect approximately one out of a thousand women, and are more frequent in older women and in certain geographic locations. "Our findings provide hope for all women with this condition and may lead to future screening and diagnostic tests," says Slim.

The study was done in collaboration with physicians at the Pakistan Institute of Medical Sciences Islamabad, American University of Beirut, Post Graduate Institute of Medical Education and Research, India, Institute of Clinical Genetics, Germany, and Notre Dame Hospital (CHUM), Canada. The study was supported by the Canadian Institutes for Health Research (CIHR) and Fonds de la recherche en santé du Québec (FRSQ).

The Ï㽶ÊÓƵ Health Centre (MUHC) is a comprehensive academic health institution with an international reputation for excellence in clinical programs, research and teaching. The MUHC is a merger of five teaching hospitals affiliated with the Faculty of Medicine at Ï㽶ÊÓƵ — the Montreal Children's, Montreal General, Royal Victoria and Montreal Neurological Hospitals, as well as the Montreal Chest Institute. Building on the tradition of medical leadership of the founding hospitals, the goal of the MUHC is to provide patient care based on the most advanced knowledge in the health care field, and to contribute to the development of new knowledge.