Vamsi K. Mootha Laboratory
Dual localized at the Massachusetts General Hospital and the Broad Institute of MIT and Harvard, our laboratory focuses on mitochondria, often referred to as the powerhouse 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, and the aging process itself.
Contrary to popular belief, the mitochondrion is incredibly dynamic. Its 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 encode a mere 13 proteins. All the other estimated 1000+ proteins are encoded in the nuclear genome and imported into this cellular compartment.
We use the new tools of genomics in combination with biochemical physiology to systematically explore mitochondrial function in health and in disease. We focus on rare, monogenic syndromes as well as common diseases. The long-term goal of our lab is to develop predictive models of mitochondrial physiology that can aid in the diagnosis and treatment of a broad 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 grants from the National Institutes of Health (NIGMS, NIDDK, NHGRI), the Howard Hughes Medical Institute, and the Nestle Research Center.
About Vamsi Mootha
Vamsi Mootha is Professor of Systems Biology and of Medicine at Harvard Medical School. He is board certified in internal medicine and specializes in rare mitochondrial diseases. His laboratory uses a blend of genomics, computation, and biochemical physiology to systematically study mitochondrial biology.
Dr. Mootha received his B.S. (with honors, with distinction) in Mathematical and Computational Science at Stanford University. He then received his M.D. (cum laude) from the Harvard-MIT Division of Health Sciences and Technology, where his thesis research focused on mitochondrial energetics. Following an internship and residency in Internal Medicine at Brigham and Women’s Hospital, he pursued postdoctoral training in Eric Lander’s laboratory at the Whitehead Institute, where he applied the new tools of genomics to study mitochondrial biology.
His research group consists of clinicians, computer scientists, and biologists, who work collaboratively to elucidate the network properties of mitochondria, and how these properties go awry in human disease. His work has led to the discovery of three genes underlying devastating human metabolic diseases, as well as to the discovery that mitochondrial dysfunction is associated with the common form of type 2 diabetes mellitus. His work has also led to the development of generic, computational strategies that have now been applied successfully to other human diseases.
Dr. Mootha has received a number of honors, including election to Phi Beta Kappa, an HHMI Physician Postdoctoral Fellowship, a Burroughs Wellcome Career Award in the Biomedical Sciences, a Culpeper Scholarship in the Clinical Sciences, an HHMI Early Physician Scientist Award, a MacArthur Foundation Fellowship, and the Judson Daland Prize of the American Philosophical Society.