Mootha, Vamsi KrishnaStrittmatter, Laura Anne2014-06-062014-06-062014Strittmatter, Laura Anne. 2014. Linking Human Genetic Variation to Mitochondrial Metabolism. Doctoral dissertation, Harvard University.http://dissertations.umi.com/gsas.harvard:11428http://nrs.harvard.edu/urn-3:HUL.InstRepos:12269839Genetic variation has a powerful impact on human metabolism and disease. Traditionally, this relationship has either been studied at a high level using top-down descriptive studies of patients with genetically defined inborn errors of metabolism, or else from the bottom up, with molecular biology and biochemical studies of single proteins. Recent advances in genetic sequencing, metabolic profiling technology, and structural biology are rapidly enabling the integration of these approaches towards a more complete description of human metabolism.en-USBiochemistrySystematic biologymalate synthaseMcArdle diseasemetabolic profilingmitochondriamitochondrial diseasevitamin B12Thesis or Dissertation