MUHC and McGill Scientists Identify Gene for Debilitating Vitamin B12 Disease.

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MONTREAL, Nov. 30 /PRNewswire/ -- Scientists at the MUHC and McGill University have identified a gene responsible for a disease that impairs the body's ability to handle vitamin B12 and that may contribute to heart disease, stroke and dementia. The details of the CIHR and March of Dimes funded research are published in this week's issue of Nature Genetics. The research, which began more than 20 years ago, will allow doctors to perform earlier diagnosis, assess 'carriers' of the disease-Combined Methylmalonic aciduria (MMA) and Homocystinuria-and open the door to new and improved treatments for this debilitating disease.

"Although this disease sometimes starts in adolescence or adulthood, we usually diagnose this rare inability to process vitamin B12 in the first few months of life," says Dr. David Rosenblatt, Chairman of Human Genetics at McGill, Director of Medical Genetics in Medicine at the MUHC, Chief of Medical Genetics at the Jewish General Hospital and lead researcher of the new study. "Babies may have breathing, feeding, visual and developmental difficulties, older patients may develop sudden neurological disease."...

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