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Patrick J. Stover     (WEB PAGE) pjs13 @ cornell.edu 315 Savage      607-255-9751   [edit] Faculty associated with: Anna E. Beaudin Department: Nutritional Sciences Field: Biochemistry, Molecular, and Cell Biology; Genomics; Nutrition Keywords: Cell and Molecular Neuroscience (23), Development (21), Genetics (9) Numerous genetic and nutritional epidemiological studies have demonstrated an association between impaired folate metabolism and risk for certain developmental anomalies including neural tube defects (NTDs). These disorders are common and potentially preventable in all human populations, however little is known about the biochemical mechanisms that regulate folate metabolism, or the role of altered folate metabolism in the initiation or progression of these disorders. The Stover laboratory focus on understanding how impairments in the metabolism of folic acid and other B-vitamins, due to nutritional deficiencies or genetic variations, alter DNA stability and expression, and how these alterations in DNA function cause disease and developmental anomalies. Folate-dependent one-carbon metabolism is required for the synthesis of purines, thymidylate and S-adenosylmethionine. Impairments in folate metabolism result from nutritional deficiencies or common and highly penetrant single nucleotide polymorphisms and increase risk for birth effects. Impairments in folate metabolism affect genome integrity, and the regulation of about 10% of mammalian genes whose transcription is regulated by cytosine and histone methylation. The Stover laboratory has recently identified new pathways for the regulation of folate metabolism and folate accumulation and the regulation of cellular methylation reactions. We have generated a number of gain-of-function and loss-of-function murine model systems to study folate metabolism during development. These model systems are used to quantify the effects of altered folate metabolism on genomic outcomes including methylation, transcription, mutation rates, and pathologic outcomes including neural tube defects and cancer. The laboratory employs a number of experimental techniques including stable isotope metabolic tracer studies to quantify metabolic flux, mass spectrometry to quantify genome integrity (uracil and methylcytosine content), and expression profiling using cDNA and oligonucleotide microarrays. These approaches, integrated with standard molecular biology and biochemical techniques, enable us to investigate the regulation of folate metabolism and comprehensively address the interactions among metabolic and genomic pathways in human health and disease.

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