論文

査読有り
2012年1月

Glycoprotein Hyposialylation Gives Rise to a Nephrotic-Like Syndrome That Is Prevented by Sialic Acid Administration in GNE V572L Point-Mutant Mice

PLOS ONE
  • Mitutoshi Ito
  • ,
  • Kazushi Sugihara
  • ,
  • Tomoya Asaka
  • ,
  • Tadashi Toyama
  • ,
  • Toru Yoshihara
  • ,
  • Kengo Furuichi
  • ,
  • Takashi Wada
  • ,
  • Masahide Asano

7
1
開始ページ
e29873
終了ページ
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1371/journal.pone.0029873
出版者・発行元
PUBLIC LIBRARY SCIENCE

Mutations in the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase, result in distal myopathy with rimmed vacuoles (DMRV)/hereditary inclusion body myopathy (HIBM) in humans. Sialic acid is an acidic monosaccharide that modifies non-reducing terminal carbohydrate chains on glycoproteins and glycolipids, and it plays an important role in cellular adhesions and interactions. In this study, we generated mice with a V572L point mutation in the GNE kinase domain. Unexpectedly, these mutant mice had no apparent myopathies or motor dysfunctions. However, they had a short lifespan and exhibited renal impairment with massive albuminuria. Histological analysis showed enlarged glomeruli with mesangial matrix deposition, leading to glomerulosclerosis and abnormal podocyte foot process morphologies in the kidneys. Glycan analysis using several lectins revealed glomerular epithelial cell hyposialylation, particularly the hyposialylation of podocalyxin, which is one of important molecules for the glomerular filtration barrier. Administering Neu5Ac to the mutant mice from embryonic stages significantly suppressed the albuminuria and renal pathology, and partially recovered the glomerular glycoprotein sialylation. These findings suggest that the nephrotic-like syndrome observed in these mutant mice resulted from impaired glomerular filtration due to the hyposialylation of podocyte glycoproteins, including podocalyxin. Furthermore, it was possible to prevent the nephrotic-like disease in these mice by beginning Neu5Ac treatment during gestation.

リンク情報
DOI
https://doi.org/10.1371/journal.pone.0029873
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/22253810
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000301361500025&DestApp=WOS_CPL
ID情報
  • DOI : 10.1371/journal.pone.0029873
  • ISSN : 1932-6203
  • PubMed ID : 22253810
  • Web of Science ID : WOS:000301361500025

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