Metabolism, infection and immunity in inborn errors of metabolism

National Human Genome Research Institute

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Abstract

Summary: My translational research program focuses on immunometabolism using mitochondrial disease as a model system. Patients with mitochondrial disease experience life threatening episodes of acute metabolic instability and organ dysfunction brought about by infection termed metabolic decompensation. Our goal is to understand how immune activation during infection contributes to this pathophysiology. This line of research also has implications for organ dysfunction during sepsis, a common problem in the intensive care unit. Since infection is important in patients with mitochondrial disease, we also wish to understand the role of mitochondrial metabolism in immune cell function. Many enzymes involved in mitochondrial metabolism are also expressed in lymphocytes, and have associated diseases. These studies will not only provide insight into immune function in mitochondrial disease patients, but also help define the role of the mitochondria in normal immune cell function.