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Possible new genetic risk factor for obesity and diabetes

February 26, 2014


New research led by Dr. Rashmi Kothary suggests that 2.5% of the population may carry a new genetic risk factor for metabolic disorders such as diabetes and obesity. The discovery stems from the work of graduate students Melissa Bowerman and John-Paul Michalski on spinal muscular atrophy (SMA), which is the leading inherited cause of death in young children. They had previously found that genetic mutations that cause SMA also cause metabolic problems in mouse models and patients. Their new paper, published in Human Molecular Genetics, suggests that these metabolic problems may extend to a much larger group of people (2.5% of the population) who are carriers of the defective SMA gene, but who do not have any related neurological problems. This research is leading to the identification of novel factors implicated in obesity and diabetes.

Funders: Canadian Institutes of Health Research, Muscular Dystrophy Association, Fight SMA and Gwendolyn Strong Foundation, University of Ottawa, The Ottawa Hospital Foundation

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The Ottawa Hospital Research Institute (OHRI) is the research arm of The Ottawa Hospital and is an affiliated institute of the University of Ottawa, closely associated with the university’s Faculties of Medicine and Health Sciences. OHRI includes more than 1,700 scientists, clinical investigators, graduate students, postdoctoral fellows and staff conducting research to improve the understanding, prevention, diagnosis and treatment of human disease.

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