Genetic disorders of copper transport .
Schaefer, Mark, and Jonathan D. Gitlin.
Edward Mallinckrodt Department of Pediatrics, Washington University
School of Medicine, St. Louis, Missouri 63110
APStracts 5:0276G, 1998.
Copper is an essential transition metal which permits the facile
transfer of electrons in a series of critical biochemical pathways.
Menkes disease and Wilson disease are inherited disorders of copper
metabolism resulting from the absence or dysfunction of homologous
copper transporting ATPases which reside in the trans-Golgi network
of all cells. Despite striking differences in the clinical
presentation of these two diseases, the respective ATPases function
in precisely the same manner within the cell and the unique clinical
features of each disease are entirely the result of the tissue
-specific expression of each protein. Elucidation of the basic defect
in these rare genetic disorders has provided a valuable heuristic
paradigm for understanding the mechanisms of cellular copper
homeostasis.
Received 16 October 1998; accepted in final form 16 October 1998.
APS Manuscript Number G426-8.
Article publication pending Am. J. Physiol. (Gastrointest. Liver
Physiology).
ISSN 1080-4757 Copyright 1998 The American Physiological Society.
Published in APStracts on 10 November 1998