Journal
VISION RESEARCH
Volume 47, Issue 5, Pages 714-722Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.visres.2006.10.023
Keywords
STGD3; Elovl4; knockout; mouse; ERG
Categories
Funding
- Intramural NIH HHS Funding Source: Medline
- NEI NIH HHS [R01EY14428, R01 EY014428-02, R01 EY014428-05A1S1, R01 EY014448-02, R01 EY014448, R01 EY014448-01, R01 EY014448-03, R01 EY014428-03, R01EY14448, R01 EY014428-04, R01 EY014428] Funding Source: Medline
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ELOVL4 was first identified as a disease-causing gene in Stargardt macular dystrophy (STGD3, MIM 600110.) To date, three ELOVL4 mutations have been identified, all of which result in truncated proteins which induce autosomal dominant juvenile macular degenerations. Based on sequence homology, ELOVL4 is thought to be another member within a family of proteins functioning in the elongation of long chain fatty acids. However, the normal function of ELOVL4 is unclear. We generated Elovl4 knockout mice to determine if Elovl4 loss affects retinal development or function. Here we show that Elovl4 knockout mice, while perinatal lethal, exhibit normal retinal development prior to death at day of birth. Further, postnatal retinal development in Elovl4 heterozygous mice appears normal. Therefore haploinsufficiency for wildtype ELOVL4 in autosomal dominant macular degeneration likely does not contribute to juvenile macular degeneration in STGD3 patients. We found, however, that Elovl4(+/-) mice exhibit enhanced ERG scotopic and photopic a and b waves relative to wildtype Elovl4(+/+) mice suggesting that reduced Elov14 levels may impact retinal electrophysiological responses. (c) 2006 Elsevier Ltd. All rights reserved.
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