Folate, Vitamin B12, and Disease

Folate- and vitamin B12-associated pathologies—including birth defects, certain cancers, and neurodegeneration diseases—are common, but their underlying mechanisms and pathways are not understood. Folic acid supplementation alone is not sufficient to reduce or eliminate risk of these pathologies.

Patrick J. Stover, Nutritional Sciences, is building on recent findings, showing that several folate- and vitamin B12- related pathologies result from impaired thymidylate biosynthesis, an essential component of DNA synthesis and cell division.

Stover and his group are now researching the biochemical, genetic, and nutritional factors that regulate de novo thymidylate (dTMP) synthesis at the sites of DNA synthesis. They are also establishing the mechanisms that underlie impairments in this pathway. As a result of these studies, the fundamental understanding of folate- and B12-dependent metabolic pathways in the nucleus and mitochondria will be established, their regulation by specific vitamins and metabolites elucidated, and their role in maintaining genome integrity characterized. Findings will inform future human studies and ultimately translate into medical practice and public health policy for the prevention and treatment of folate- and vitamin B12-associated pathologies. NIH Award Number: 4R37DK058144-15

Cornell Researchers

Funding Received

$2 Million spanning 5 years

Other Research Sponsored by National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases