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 language | English (US) |
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Pages (from-to) | 5459-5463 |
Number of pages | 5 |
Journal | FEBS Letters |
Volume | 581 |
Issue number | 28 |
DOIs | |
State | Published - Nov 27 2007 |
Externally published | Yes |
Keywords
- Mass spectrometry
- Phosphatidylcholine
- Retina
- Stargardt disease-3
- Unfolded-protein response
- Very long chain fatty acid
ASJC Scopus subject areas
- Biochemistry
- Biophysics
- Molecular Biology