Genetic, evolutionary, and genomic analysis of homocysteine and folate pathway regulation
Abstract
TOSHIMORI KITAMI Abnormalities in homocysteine and folate metabolism are associated with increased risk for several common human diseases.Both elevated serum homocysteine and low dietary folate intake increase the risk for cardiovascular diseases, neural tube defects, cancers, and neurodegeneration.Although common mutations in these pathways have been identified, they do not fully account for the variety of disease types that are associated with increased homocysteine or low folate levels.Mouse models allow us to control many of the genetic and environmental variables inherent in human studies, allowing us to dissect genes, pathways, and nutrients important for disease pathogenesis.Previous mouse studies showed that mutations in other pathways can significantly modulate functions of homocysteine and folate metabolism and modify disease phenotypes suggesting that these pathway interactions and their regulations are crucial to understanding the role of homocysteine and folate metabolism in complex diseases.To study these pathway interactions and their regulation, I used genetic, evolutionary, and genomic approaches.I first used a unique mouse strain PL/J to dissect the genetic control of key enzyme methylenetetrahydrofolate reductase (MTHFR) and its potential role in disease phenotypes.I found that seizure and kinky tail phenotype in these mice were
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