Gene causing B12 disease is identified

MONTREAL, Quebec, Nov 30, 2005 (UPI via COMTEX) -- McGill University scientists in Montreal report identifying the gene responsible for causing a debilitating vitamin B12 disease.

Researchers said the gene impairs the body's ability to handle vitamin B12 and that may contribute to heart disease, stroke and dementia.

The findings of the research, started more than 20 years ago, will allow doctors to perform earlier diagnosis, assess "carriers" of the disease and lead to new and improved treatments for the debilitating disease, the scientists said.

"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," said Dr. David Rosenblatt, chairman of human genetics at McGill, chief of medical genetics at Montreal's Jewish General Hospital and lead researcher of the study.

Vitamin B12, found in all animal products, is needed for synthesis of red blood cells and maintenance of the nervous system. A deficiency in babies may cause breathing, feeding, visual and developmental difficulties, while older patients may develop sudden neurological diseases.

Researchers say the discovery offers hope of earlier diagnosis and additional treatment options for genetic diseases.

The study appears in the journal Nature Genetics.

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