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Copper Chaperones for Cytochrome c Oxidase and Human Disease

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Abstract

Biological processes in living cells are compartmentalized between lipid membranes. Integral membrane proteins often confer specific functions to these compartments and as such have a critical role in cellular metabolism and function. Cytochrome c oxidase is a macromolecular metalloprotein complex essential for the respiratory function of the cell. Elucidating the mechanisms of assembly of cytochrome c oxidase within the inner mitochondrial membrane represents a unique challenge for understanding metalloprotein biosynthesis. Elegant genetic experiments in yeast have defined several proteins required for copper delivery to cytochrome c oxidase. While the precise role of each of these proteins in copper incorporation remains unclear, recent studies have revealed that inherited mutations in two of these proteins can result in severe pathology in human infants in association with cytochrome c oxidase deficiency. Characterization of the molecular pathogenesis of these disorders offers new insights into the mechanisms of cellular copper metabolism and the role of these cytochrome c oxidase copper chaperones in human disease.

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Authors and Affiliations

  1. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, McDonnell Pediatric Research Building, 660 South Euclid Avenue, St. Louis, Missouri, 63110

    Iqbal Hamza & Jonathan D. Gitlin

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  1. Iqbal Hamza
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  2. Jonathan D. Gitlin
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Correspondence to Jonathan D. Gitlin.

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Hamza, I., Gitlin, J.D. Copper Chaperones for Cytochrome c Oxidase and Human Disease. J Bioenerg Biomembr 34, 381–388 (2002). https://doi.org/10.1023/A:1021254104012

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