Journal
FEBS LETTERS
Volume 581, Issue 28, Pages 5459-5463Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.febslet.2007.10.050
Keywords
Stargardt disease-3; retina; very long chain fatty acid; phosphatidylcholine; unfolded-protein response; mass spectrometry
Funding
- Intramural NIH HHS Funding Source: Medline
- NEI NIH HHS [R03 EY015409-02, R03 EY015409-03, EY 15409, R03 EY015409, R03 EY015409-01] Funding Source: Medline
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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. Published by Elsevier B.V. on behalf of the Federation of European Biochemical Societies.
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