NDLI: Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia

Content Provider	PubMed Central
Author	Tiel, Groenestege Wouter M. Thébault, Stéphanie Van, Der Wijst Jenny Berg, Dennis Van Den Janssen, Rob Sabine, Tejpar Heuvel, Lambertus P. Van Den Van Cutsem, Eric Hoenderop, Joost G. Knoers, Nine V. Bindels, René J.
Copyright Year	2007
Abstract	Primary hypomagnesemia constitutes a rare heterogeneous group of disorders characterized by renal or intestinal magnesium (Mg2+) wasting resulting in generally shared symptoms of Mg2+ depletion, such as tetany and generalized convulsions, and often including associated disturbances in calcium excretion. However, most of the genes involved in the physiology of Mg2+ handling are unknown. Through the discovery of a mutation in the EGF gene in isolated autosomal recessive renal hypomagnesemia, we have, for what we believe is the first time, identified a magnesiotropic hormone crucial for total body Mg2+ balance. The mutation leads to impaired basolateral sorting of pro-EGF. As a consequence, the renal EGFR is inadequately stimulated, resulting in insufficient activation of the epithelial Mg2+ channel TRPM6 (transient receptor potential cation channel, subfamily M, member 6) and thereby Mg2+ loss. Furthermore, we show that colorectal cancer patients treated with cetuximab, an antagonist of the EGFR, develop hypomagnesemia, emphasizing the significance of EGF in maintaining Mg2+ balance.
Related Links	http://dx.doi.org/10.1172/JCI31680
Starting Page	2260
File Format	PDF
ISSN	00219738
Journal	Journal of Clinical Investigation
Issue Number	8
Volume Number	117
Language	English
Publisher	American Society for Clinical Investigation
Publisher Date	2007-08-01
Access Restriction	Open
Rights Holder	American Society for Clinical Investigation
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Medicine

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