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D.J. Cameron, G. Karan, Z. Yang, X. Li, K. Zhang, H.R. Vollmer–Snarr; A2E Accumulation Associated with Elovl4 and Macular Degeneration . Invest. Ophthalmol. Vis. Sci. 2004;45(13):1767.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Stargardt–like macular dystrophy is an autosomal dominant form of early onset macular degeneration. The disease causing gene ELOVL4 encodes a protein that belongs to a family of proteins functioning in elongation of long chain fatty acids. The purpose of this study is to investigate the A2E accumulation in mouse eyes with human mutant ELOVL4 transgene, a model of Stargardt–like macular dystrophy and age–related macular degeneration. Methods:Mice with human mutant ELOVL4 transgene are raised under normal breeding conditions. The retinas are removed from mice at 4–7 months of age and from mice 8–11 months in age. The eye cups (RPE) are separated from the retinas. A2E is extracted from the RPE samples and quantified using reverse phase high pressure liquid chromatography (HPLC). Results: A2E was found in the RPE of mutant ELOVL4 transgenic mice. Quantification of A2E revealed that approximately 0.83 nanomoles of A2E per eye was present in transgenic mice at age ranges 6–11 months. Conclusions: The identified levels of A2E suggest that Elovl4 may play a role in A2E accumulation and suggest RPE toxicity may be a mechanism of macular degeneration.
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