Effect of reduced retinal VLC-PUFA on rod and cone photoreceptors

Investigative Ophthalmology and Visual Science

Volumn 55, Issue 5, 2014, Pages 3150-3157

  Bennett, Lea D ^a,b   Brush, Richard S ^a,b   Chan, Michael ^a,b   Lydic, Todd A ^c   Reese, Kristen ^c   Reid, Gavin E ^c,d   Busik, Julia V ^c   Elliott, Michael H ^a,b,e   Anderson, Robert E ^a,b,e  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF OKLAHOMA HEALTH SCIENCES CENTER   (United States)

^c MICHIGAN STATE UNIVERSITY   (United States)

^d Michigan State University   (United States)

^e UNIVERSITY OF OKLAHOMA HEALTH SCIENCES CENTER   (United States)

Author keywords

Elovl4; STDG3; VLC PUFA

Indexed keywords

POLYUNSATURATED FATTY ACID; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID; VERY LONG CHAIN POLYUNSATURATED FATTY ACID;

ADULT; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRIGHT FIELD MICROSCOPY; CONTROLLED STUDY; DOMINANT GENE; ELECTRORETINOGRAPHY; ELONGATION OF VERY LONG FATTY ACIDS 4 GENE; GENE DELETION; GENE MUTATION; HISTOLOGY; IMMUNOFLUORESCENCE; LIPID ANALYSIS; MOUSE; NONHUMAN; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA CONE; RETINA MACULA DEGENERATION; RETINA ROD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STARGARDT DISEASE; TANDEM MASS SPECTROMETRY; TRANSMISSION ELECTRON MICROSCOPY; WESTERN BLOTTING;

ELOVL4; STDG3; VLC-PUFA;

ANIMALS; DISEASE MODELS, ANIMAL; ELECTRORETINOGRAPHY; EYE PROTEINS; FATTY ACIDS, UNSATURATED; GENE DELETION; MACULAR DEGENERATION; MEMBRANE PROTEINS; MICE; MICROSCOPY, ELECTRON, TRANSMISSION; RETINA; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL ROD PHOTORECEPTOR CELLS;

EID: 84901261641     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-13995     Document Type: Article

References (33)

1. Edwards AO, Donoso LA, Ritter R III. A novel gene forautosomal dominant Stargardt-like macular dystrophy withhomology to the SUR4 protein family. Invest Ophthalmol VisSci. 2001;42:2652-2663.
2. Zhang K, Kniazeva M, Han M, et al. A 5-bp deletion in ELOVL4is associated with two related forms of autosomal dominantmacular dystrophy. Nat Genet. 2001;27:89-93.
3. Donoso LA, Frost AT, Stone EM, et al. Autosomal dominantStargardt-like macular dystrophy: founder effect and reassessmentof genetic heterogeneity. Arch Ophthalmol. 2001;119:564-570.
4. Griesinger IB, Sieving PA, Ayyagari R. Autosomal dominantmacular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRAloci. Invest Ophthalmol Vis Sci. 2000;41:248-255.
5. Kniazeva M, Chiang MF, Morgan B, et al. A new locus forautosomal dominant stargardt-like disease maps to chromosome 4. Am J Hum Genet. 1999;64:1394-1399.
6. Agbaga MP, Brush RS, Mandal MNA, Henry K, Elliott MH, Anderson RE. Role of Stargardt-3 macular dystrophy protein(ELOVL4) in the biosynthesis of very long chain fatty acids. Proc Nat Acad Sci U S A. 2008;105:12843-12848.
7. Harkewicz R, Du H, Tong Z, et al. Essential role of ELOVL4protein in very long chain fatty acid synthesis and retinalfunction. J Biol Chem. 2012;287:11469-11480.
8. Barabas P, Liu A, Xing W, et al. Role of ELOVL4 and very longchainpolyunsaturated fatty acids in mouse models of Stargardttype 3 retinal degeneration. Proc Natl Acad Sci U S A. 2013;110:5181-5186.
9. Logan S, Agbaga MP, Chan MD, et al. Deciphering mutantELOVL4 activity in autosomal-dominant Stargardt maculardystrophy. Proc Natl Acad Sci U S A. 2013;110:5446-5451.
10. Mandal MNAR, Wong PW, Gage PJ, Sieving PA, Ayyagari R. Characterization of mouse orthologue of ELOVL4: genomicorganization and spatial and temporal expression. Genomics.2004;83:626-635.
11. Vasireddy V, Uchida Y, Salem N Jr, et al. Loss of functionalELOVL4 depletes very long-chain fatty acids (> or 1/4C28) andthe unique omega-O-acylceramides in skin leading to neonataldeath. Hum Mol Genet. 2007;16:471-482.
12. Li W, Sandhoff R, Kono M, et al. Depletion of ceramides withvery long chain fatty acids causes defective skin permeabilitybarrier function, and neonatal lethality in ELOVL4 deficientmice. Int J Biol Sci. 2007;3:120-128.
13. Furland NE, Oresti GM, Antollini SS, Venturino A, MaldonadoEN, Aveldano MI. Very long-chain polyunsaturated fatty acidsare the major acyl groups of sphingomyelins and ceramides inthe head of mammalian spermatozoa. J Biol Chem. 2007;282:18151-18161.
14. Aveldãno MI, Sprecher H. Very long chain (C24 to C36)polyenoic fatty acids of the n-3 and n-6 series in dipolyunsaturatedphosphatidylcholines from bovine retina. J Biol Chem.1987;262:1180-1186.
15. Aveldãno MI. A novel group of very long chain polyenoic fattyacids in dipolyunsaturated phosphatidylcholines from vertebrateretina. J Biol Chem. 1987;262:1172-1179.
16. Ueki Y, Wang J, Chollangi S, Ash JD. STAT3 activation inphotoreceptors by leukemia inhibitory factor is associatedwith protection from light damage. J Neurochem. 2008;105:784-796.
17. Bligh EG, Dyer WJ. A rapid method of total lipid extraction andpurification. Canad J Biochem Physiol. 1959;37:911-917.
18. Morrison WR, Smith LM. Preparation of fatty acid methylesters and dimethylacetals from lipids with boron fluoride-methanol. J Lipid Res. 1964;5:600-608.
19. Yu M, Benham A, Logan S, et al. ELOVL4 protein preferentiallyelongates 20:5n3 to very long chain PUFAs over 20:4n6 and22:6n3. J Lipid Res. 2012;53:494-504.
20. Julia V, Busik GER, Lydic TA. Global analysis of retina lipids bycomplementary precursor ion and neutral loss mode tandemmass spectrometry. Methods Mol Biol. 2009;579:33-70.
21. Haimi P, Uphoff A, Hermansson M, Somerharju P. Softwaretools for analysis of mass spectrometric lipidome data. AnalChem. 2006;78:8324-8331.
22. Li F, Marchette LD, Brush RS, et al. DHA does not protectELOVL4 transgenic mice from retinal degeneration. Mol Vis.2009;15:1185-1193.
23. Hood DC, Birch DG. Rod phototransduction in retinitispigmentosa: estimation and interpretation of parametersderived from the rod a-wave. Invest Ophthalmol Vis Sci.1994;35:2948-2961.
24. Lamb TD, Pugh EN Jr. A quantitative account of the activationsteps involved in phototransduction in amphibian photoreceptors. J Physiol. 1992;449:719-758.
25. Weymouth AE, Vingrys AJ. Rodent electroretinography:methods for extraction and interpretation of rod and coneresponses. Prog Retin Eye Res. 2008;27:1-44.
26. Naka KI, Rushton WA. S-potentials from luminosity units in theretina of fish (Cyprinidae). J Physiol. 1966;185:587-599.
27. Marchette LD, Wang H, Li F, Babizhayev MA, Kasus-Jacobi A. Carcinine has 4-hydroxynonenal scavenging property andneuroprotective effect in mouse retina. Invest Ophthalmol VisSci. 2012;53:3572-3583.
28. Liu IS, Chen JD, Ploder L, et al. Developmental expression of anovel murine homeobox gene (Chx10): evidence for roles indetermination of the neuroretina and inner nuclear layer. Neuron. 1994;13:377-393.
29. Barabas P, Liu A, Xing W, et al. Role of ELOVL4 and very longchainpolyunsaturated fatty acids in mouse models of Stargardttype 3 retinal degeneration. Proc Natl Acad Sci U S A. 2013;110:5181-5186.
30. Hubbard AF, Askew EW, Singh N, Leppert M, Bernstein PS. Association of adipose and red blood cell lipids with severityof dominant Stargardt macular dystrophy (STGD3) secondaryto an ELOVL4 mutation. Arch Ophthalmol. 2006;124:257-263.
31. Kuny S, Filion M-A, Suh M, Gaillard F, Sauvé Y. Long-termretinal cone survival and delayed alteration of the cone mosaicin a transgenic mouse model of Stargardt-like dystrophy(STGD3). Invest Ophthalmol Vis Sci. 2013;55:424-439.
32. Le YZ, Zheng L, Zheng W, et al. Mouse opsin promoterdirectedCre recombinase expression in transgenic mice. MolVis. 2006;12:389-398.
33. Rowan S, Cepko CL. Genetic analysis of the homeodomaintranscription factor Chx10 in the retina using a novelmultifunctional BAC transgenic mouse reporter. Dev Biol.2004;271:388-402.