Jonathan D. Gitlin, M.D.

RESEARCH INTEREST

Our research interests relate to understanding the pathways of copper trafficking at the cellular and molecular level. Copper is an essential trace element with a critical role in the biochemistry of cellular respiration, antioxidant defense and iron homeostasis. The liver is the central organ of copper homeostasis in human and the long-term objective of these studies is to define the role of copper in pediatric liver disease. The laboratory has focused on the inherited disorder of copper metabolism Wilson disease, defining the molecular genetics of the Wilson Disease P-type ATPase and a novel family of proteins termed copper chaperones that deliver copper to specific targets within the hepatocyte. Elucidation of the structure and function of these proteins reveals a remarkable evolutionary conservation of the mechanisms of copper metabolism and provides a useful heuristic paradigm for understanding cellular metalloprotein biosynthesis. Taken together the results of these studies will permit further insight into the molecular and cellular mechanisms of copper trafficking in hepatocytes and may allow for novel therapeutic approaches to prevent or ameliorate childhood liver disease resulting from perturbations in metal metabolism.

SELECTED PUBLICATIONS