A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines

Anne McMahon, Shelley N. Jackson, Amina S. Woods, Wojciech Kedzierski

Research output: Contribution to journalArticlepeer-review

Abstract

Stargardt disease-3 (STGD3) is a juvenile dominant macular degeneration caused by mutations in elongase of very long chain fatty acid-4. All identified mutations produce a truncated protein which lacks a motif for protein retention in endoplasmic reticulum, the site of fatty acid synthesis. In these studies of Stgd3-knockin mice carrying a human pathogenic mutation, we examined two potential pathogenic mechanisms: truncated protein-induced cellular stress and lipid product deficiency. Analysis of mutant retinas detected no cellular stress but demonstrated selective deficiency of C32-C36 acyl phosphatidylcholines. We conclude that this deficit leads to the human STGD3 pathology.

Original languageEnglish (US)
Pages (from-to)5459-5463
Number of pages5
JournalFEBS Letters
Volume581
Issue number28
DOIs
StatePublished - Nov 27 2007
Externally publishedYes

Keywords

  • Mass spectrometry
  • Phosphatidylcholine
  • Retina
  • Stargardt disease-3
  • Unfolded-protein response
  • Very long chain fatty acid

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

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