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Discovery of the gene responsible for multiple intestinal atresia in newborns
Date:6/11/2013

This news release is available in French.

Physicians and researchers from Sherbrooke, Montreal and Quebec City have conducted a study that has led to the discovery of a gene that causes multiple intestinal atresia (MIA), a rare and life-threatening hereditary disorder that affects newborns. In addition to exploring novel therapeutic treatments for children with the disease, the discovery of the gene TTC7A will make it possible to develop a prenatal diagnostic test and a screening test for parents who are carriers. The Centre hospitalier universitaire de Sherbrooke (CHUS) should offer the tests.

MIA is a congenital disease characterized by multiple obstructions all along the digestive tract from the stomach to the small intestine and colon often associated with severe immune deficiency. By studying the DNA of children with MIA, the research team identified mutations in the TTC7A gene, including one that turns out to be relatively common in the French-speaking population of Quebec.

A devastating and life-threatening disease

While the disease is rare, about thirty cases have been recorded in Quebec over the last 30 years. Even today, it remains a devastating and fatal condition. "Multiple surgeries, intestinal transplants and bone marrow transplants have not led to any real solutions for the disease. Even after such interventions, the newborns' digestive tract does not always work the way it should. The life expectancy of these children is about two to three months. With the discovery of the gene responsible for the disease, it will now be possible to confirm an MIA diagnosis in newborns using genetic tests," states Dr. Bruno Maranda, who is a physician-geneticist at the CHUS, an investigator at the CHUS' Centre de recherche clinique tienne-Le Bel (CRC
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Contact: Mathieu Filion
m.filion.rivest@umontreal.ca
514-343-7704
University of Montreal
Source:Eurekalert

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