title: Very long chain polyunsaturated fatty acids and rod cell structure and function.
abstract: The gene encoding Elongation of Very Long Chain Fatty Acids-4 (ELOVL4) is mutated in patients with autosomal dominant Stargardt's Macular Dystrophy Type 3 (STDG3). ELOVL4 catalyzes the initial condensation step in the elongation of polyunsaturated fatty acids (PUFA) containing more than 26 carbons (26C) to very long chain PUFA (VLC-PUFA; C28 and greater). To investigate the role of VLC-PUFA in rod photoreceptors, we generated mice with rod-specific deletion of Elovl4 (RcKO). The mosaic deletion of rod-expressed ELOVL4 protein resulted in a 36 % lower amount of VLC-PUFA in the retinal phosphatidylcholine (PC) fraction compared to retinas from wild-type mice. However, this reduction was not sufficient to cause rod dysfunction at 7 months or photoreceptor degeneration at 9 or 15 months.
authors.affiliation: Department of Cell Biology, University of Oklahoma Health Sciences Center, 73104, Oklahoma City, OK, USA, leamarchette@ouhsc.edu.
authors.forename: L D
authors.initials: LD
authors.lastname: Marchette
authors.forename: D M
authors.initials: DM
authors.lastname: Sherry
authors.forename: R S
authors.initials: RS
authors.lastname: Brush
authors.forename: M
authors.initials: M
authors.lastname: Chan
authors.forename: Y
authors.initials: Y
authors.lastname: Wen
authors.forename: J
authors.initials: J
authors.lastname: Wang
authors.forename: John D
authors.initials: JD
authors.lastname: Ash
authors.forename: Robert E
authors.initials: RE
authors.lastname: Anderson
authors.forename: N A
authors.initials: NA
authors.lastname: Mandal
mesh_terms: D000818:Animals; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics / Q000378:metabolism*; D005231:Fatty Acids, Unsaturated / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D051379:Mice; D008817:Mice, Mutant Strains; D009030:Mosaicism; D010713:Phosphatidylcholines / Q000378:metabolism*; D012162:Retinal Degeneration / Q000235:genetics / Q000378:metabolism*; D017948:Retinal Rod Photoreceptor Cells / Q000166:cytology* / Q000378:metabolism*
chemical_list: C498834:Elovl4 protein, mouse; D005136:Eye Proteins; D005231:Fatty Acids, Unsaturated; D008565:Membrane Proteins; D010713:Phosphatidylcholines