Polyunsaturated very-long-chain C28-C36 fatty acids and retinal physiology.

Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.

Elongase of very long chain fatty acids-4 (ELOVL4) is the only mammalian enzyme known to synthesize C28-C36 fatty acids. In humans, ELOVL4 mutations cause Stargardt disease-3 (STGD3), a juvenile dominant macular degeneration. Heterozygous Stgd3 mice that carry a pathogenic mutation in the mouse Elovl4 gene demonstrate reduced levels of retinal C28-C36 acyl phosphatidylcholines (PC) and epiderma...

Very-long-chain polyunsaturated fatty acids in the retina: analysis and clinical relevance in physiological and pathological conditions

The retina is one of the vertebrate tissues with the highest content of polyunsaturated fatty acids (PUFA). A large proportion of the retinal glycerophospholipids, especially those of photoreceptor membranes, consist of dipolyunsaturated molecular species. Studies have reported that dipolyunsaturated phosphatidylcholine (PC) molecular species present in both rodand cone-dominant retinas contain...

Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids.

Stargardt-like macular dystrophy (STGD3) is a dominantly inherited juvenile macular degeneration that eventually leads to loss of vision. Three independent mutations causing STGD3 have been identified in exon six of a gene named Elongation of very long chain fatty acids 4 (ELOVL4). The ELOVL4 protein was predicted to be involved in fatty acid elongation, although evidence for this and the speci...

mice by homologous recombination Abstract ELOVL2 is a member of the mammalian mi- crosomal ELOVL fatty acid enzyme family, involved in the elongation of very long-chain fatty acids including PUFAs

Journal of Lipid Research Volume 52, 2011 245 Copyright © 2011 by the American Society for Biochemistry and Molecular Biology, Inc. Essential fatty acids, i.e., linoleic (C18:2n-6) and -linolenic acid (C18:3n-3), which are prerequisites for normal growth, development, and function in mammals, cannot be synthesized de novo and, as such, have to be derived from diet ( 1 ). Subsequently, the C18:2...

Unique thermal behavior of sphingomyelin species with nonhydroxy and 2-hydroxy very-long-chain (C28-C32) polyunsaturated fatty acids