Linking Human Genetic Variation to Mitochondrial Metabolism
Contributors: Mootha, Vamsi K.; Clardy, Jon; Berry, Gerard T.; Mazitschek, Ralph
Published: 2014
Language: eng
Description: Genetic 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.
Notes: Keywords: malate synthase, McArdle disease, metabolic profiling, mitochondria, mitochondrial disease, vitamin B12.

Thesis Ph.D. Harvard University 2014