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The Children's Research Institute

Intermediary Metabolism

This program explores the clinical effects in variation in basic life-sustaining biochemistry under conditions of genetic and/or  environmental disruption. These investigators focus on classic, rare inborn errors of metabolism as well as variations in metabolism and drug response under stressful clinical conditions and/or infection. In addition, they look at the role of viral infections in altering movement of proteins between mitochondria (which produce energy for living cells) and other intracellular compartments.

Marshall Summar, MD, is the Chief of the Division of Genetics and Metabolism. His research examines how dysfunction in the production of nitric oxide precursors and/or enzymes involved in glutathione oxidant response affects patients under stressful conditions. This currently involves projects in neonatology, critical care medicine, neurology, fetal and translational medicine and cardiac surgery. In addition, the group evaluates the role chronic oxidant injury in cardiac disease and neurological deterioration associated with Down syndrome.

Kimberly Chapman, MD, PhD, is engaged  in work examining bioenergetics in patients with the organic acidemia. Dr. Chapman studies the blockade of classic energy metabolism in these patients which is closely related to effects on energy metabolism from high-dose chemotherapy and certain seizure medications. 

Human cytomegalovirus (HCMV) is a medically significant  herpesvirus. HCMV congenital infection is the leading viral cause of congenital birth defects in developed countries. Annamaris Colberg-Poley, PhD, studies HCMV proteins (UL37) that target a specific mitochondrial-associated membrane (MAM). The MAM is a critical site for sensing endoplasmic reticulum (ER) stress and for coordinating transmission of mitochondrial cell death signals to the rest of the cell. The long term goals of Dr. Colberg-Poley’s work include understanding how proteins travel from the ER to mitochondria (using UL37 proteins as a model for this process), and to gain insight into how HCMV interacts with host cells.

Faculty interests in disorders of intermediary metabolism include:

Nitric oxide and glutathione metabolism

  • Marshall Summar, MD
  • Brendan Lanpher, MD

Organic acidemia

Fatty acid oxidation, HIV drugs

  • Brendan Lampher, MD
  • Marshall Summar, MD

Trafficking of viral proteins and mitochondrial signaling

  • Anamaris Colberg-Poley, PhD