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JCI table of contents: March 23, 2009
Date:3/23/2009

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NEPHROLOGY: New gene linked to low levels of magnesium

A small number of individuals have genetic mutations that cause them to have very low levels of magnesium (Mg2+), which can cause altered heart beats, seizures, and involuntary muscle contraction. Study of these patients has provided a lot of our information about how Mg2+ levels are normally controlled, which is of clinical importance as it has been estimated that up to 60% of critically ill patients have low Mg2+ levels, and this is associated with increased mortality. Ren Bindels and colleagues, at Radboud University Nijmegen Medical Centre, The Netherlands, have now identified a new gene mutation in a family with hypomagnesemia, providing new insight into the mechanisms that regulate Mg2+ levels.

In the study, a mutation in the KCNA1 gene, which makes a protein known as Kv1.1, was found to cause hypomagnesemia in a large family with many individuals suffering from the disease. Detailed analysis revealed that the mutation generated a nonfunctional Kv1.1 protein and that it affected Mg2+ reabsorption by the protein TRPM6 in a region of the kidney known as the distal convoluted tubule. In an accompanying commentary, David Ellison, at Oregon Health & Science University, Portland, discusses the importance of the data and suggests how they might explain some of the clinical situations in which critically ill patients have low Mg2+ levels.

TITLE: A missense mutation in the Kv1.1 voltage-gated potassium channelencoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

AUTHOR CONTACT:
Ren J. Bindels
Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Phone: 31-24-3614211; Fax: 31-24-3616413; E-mail: r.bindels@ncmls.ru.nl.

View the PDF of this article at: https://www.the-jci.org/article.php?id=36948

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Contact: Karen Honey
press_releases@the-jci.org
215-573-1850
Journal of Clinical Investigation
Source:Eurekalert

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