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Sizing up sialic acid in glomerular disease
Susan E. Quaggin
Susan E. Quaggin
Published June 1, 2007
Citation Information: J Clin Invest. 2007;117(6):1480-1483. https://doi.org/10.1172/JCI32482.
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Commentary Article has an altmetric score of 3

Sizing up sialic acid in glomerular disease

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Abstract

A new study by Galeano and colleagues in this issue of the JCI reports the first glomerular disease caused by a genetic defect in sialic acid biosynthesis (see the related article beginning on page 1585). Mice that harbor mutations in the Gne/Mnk gene produce lower amounts of sialic acid, suffer from hematuria, proteinuria, and structural defects in the glomerulus and die within days after birth. Remarkably, the lesion can be reversed through dietary addition of N-acetylmannosamine, a sialic acid precursor, raising the intriguing possibility that this approach might have therapeutic benefit in patients with glomerular disease.

Authors

Susan E. Quaggin

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Figure 2

The glomerular filtration barrier, with and without sialylated proteins.

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The glomerular filtration barrier, with and without sialylated proteins....
Blood enters the glomerular capillaries and is filtered across the endothelium and the basement membrane and through the filtration slits between podocyte foot processes to produce the primary urinary filtrate. In healthy glomeruli, this barrier restricts the passage of macromolecules but is highly permeable to water and small solutes. In this issue of the JCI, Galeano et al. (1) show that a mutation (M712T) in Gne/Mnk in mice results in a reduction in the number of sialic acid residues on critical glomerular proteins such as PC that are found on the apical surface of podocytes. Loss of sialylated proteins is associated with foot process fusion or collapse, splitting of the glomerular basement membrane (GBM), and loss of rbc and proteins such as albumin into the urine. Dietary supplementation with ManNAc prolongs life in mutant GneM712T/M712T mice and improves ultrastructure of the glomerular filtration barrier.

Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

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Referenced in 3 patents
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