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JCI online early table of contents: Nov. 6, 2008
Date:11/6/2008

726-5708;
E-mail: rweissleder@mgh.harvard.edu.

View the PDF of this article at: https://www.the-jci.org/article.php?id=36335


GENETICS: Unraveling the genetic defects underlying two kidney conditions

John Rasko and colleagues, at the Centenary Institute, Australia, have provided new insight into the genes that are mutated in individuals with two related kidney defects: iminoglycinuria (IG), which occurs when individuals cannot efficiently reabsorp the protein building blocks glycine, proline, and hydroxyproline, so they are excreted at high levels in the urine; and hyperglycinuria without iminoaciduria (HG), which occurs when individuals cannot efficiently reabsorp glycine, so it is excreted at high levels in the urine.

By screening many candidate genes in 7 families first identified through newborn IG screening programs, the authors found that most individuals with IG had two nonfunctional copies of the gene SLC36A2, which is normally responsible for making a transporter protein that helps kidney cells reabsorp protein building blocks. Furthermore, inheritance of one nonfunctional copy of SLC36A2 was the cause of HG. However, the genetic cause of these disorders was not quite that simple, as some individuals with IG had an SLC36A2 gene that could make protein, but it was not as functional as the normal protein. In these people, mutations in other transporter proteins were detected, leading the authors to conclude that mutations in a major gene (SLC36A2) and accompanying modifier genes are the genetic cause of these related conditions.

TITLE: Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters

AUTHOR CONTACT:
John E.J. Rasko
Centenary Institute, Camperdown, New South Wales, Australia.

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Contact: Karen Honey
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Journal of Clinical Investigation
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