Welcome to the Mootha Lab Homepage. Our lab is based in the Department of Molecular Biology at Massachusetts General Hospital. We are also a part of the Broad Metabolism Program based at the Broad Institute as well as the Department of Systems Biology at Harvard Medical School.
Our laboratory focuses on mitochondria, often referred to as the powerhouses of the cell. These organelles are found in virtually all of our body’s cells and are responsible for generating the bulk of cellular ATP. In addition, the organelle plays a central role in apoptosis, ion homeostasis, intermediary metabolism, and biosynthesis. Studies during the past 25 years have demonstrated a clear role of the mitochondrion in rare, inborn errors of metabolism. More recent studies, including those from our group, have implicated mitochondrial dysfunction in a variety of common human diseases, such as diabetes, neurodegeneration, cancer, and the aging process itself.
Mitochondria are dynamic. Their protein composition and functional properties vary across cell types, remodel during development, and respond to external stimuli. Mitochondria contain their own genome (referred to as mtDNA) which encodes a mere 13 proteins. All the other estimated 1000+ proteins are encoded in the nuclear genome and imported into this cellular compartment.
We combine the new tools of genomics with rigorous computation and biochemical physiology to systematically explore mitochondrial function in health and in disease. We focus primarily on fundamental mitochondrial physiology and rare, monogenic syndromes, with the full expectation that our insights will inform the biology of common disease. Our long-term goal is to use the insights we gain to improve the diagnosis and treatment of a range of human diseases.
Our team consists of biologists, computer scientists, and clinicians that work together in a highly collaborative environment. The laboratory is currently supported by funds from the National Institutes of Health and the Howard Hughes Medical Institute.