title: Sizing up sialic acid in glomerular disease.
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.affiliation: The Samuel Lunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. quaggin@mshri.on.ca
authors.forename: Susan E
authors.initials: SE
authors.lastname: Quaggin
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D005260:Female; D006595:Hexosamines / Q000627:therapeutic use; D006801:Humans; D007674:Kidney Diseases / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism*; D007678:Kidney Glomerulus / Q000378:metabolism; D051379:Mice; D008817:Mice, Mutant Strains; D008954:Models, Biological; D009097:Multienzyme Complexes / Q000235:genetics / Q000378:metabolism; D019158:N-Acetylneuraminic Acid / Q000096:biosynthesis*; D011247:Pregnancy
chemical_list: D006595:Hexosamines; D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase; D019158:N-Acetylneuraminic Acid; C002022:N-acetylmannosamine