Carnitine Palmitoyltransferase i and Acyl-CoA Dehydrogenase 9 in Retina: Insights of Retinopathy in Mitochondrial Trifunctional Protein Defects

Investigative Ophthalmology and Visual Science

Volumn 49, Issue 4, 2008, Pages 1660-1664

  Roomets, Eva ^a,b   Kivelä, Tero ^b   Tyni, Tiina ^a  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYL COENZYME A DEHYDROGENASE 9; CARNITINE PALMITOYLTRANSFERASE I; MESSENGER RNA; UNCLASSIFIED DRUG; ACADVL PROTEIN, HUMAN; CARNITINE PALMITOYLTRANSFERASE; FATTY ACID BETA OXIDATION MULTIENZYME COMPLEX; FATTY ACID BETA-OXIDATION MULTIENZYME COMPLEX; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; MULTIENZYME COMPLEX;

ANIMAL CELL; ARTICLE; CHORIORETINOPATHY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; HUMAN; HUMAN CELL; MITOCHONDRIA TRIFUNCTIONAL PROTEIN DEFECT; NONHUMAN; PHOTORECEPTOR CELL; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT; RETINA GANGLION CELL; ANIMAL; BRAIN; CELL LINE; ENZYMOLOGY; GENE EXPRESSION REGULATION; GENETICS; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; LIVER; METABOLISM; PHYSIOLOGY; RETINA; RETINA DISEASE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKELETAL MUSCLE; WISTAR RAT;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; ANIMALS; BRAIN; CARNITINE O-PALMITOYLTRANSFERASE; CELL LINE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; LIVER; MULTIENZYME COMPLEXES; MUSCLE, SKELETAL; PIGMENT EPITHELIUM OF EYE; RATS; RATS, WISTAR; RETINA; RETINAL DISEASES; RETINAL GANGLION CELLS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 45549101505     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.07-1094     Document Type: Article

References (22)

1. Kamijo T, Wanders RJ, Saudubray JM, Aoyama T, Komiyama A, Hashimoto T. Mitochondrial trifunctional protein deficiency: catalytic heterogeneity of the mutant enzyme in two patients. J Clin Invest. 1994;93:1740-1747.
2. Tyni T, Kivelä T, Lappi M, Summanen P, Nikoskelainen E, Pihko H. Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy. Ophthalmology. 1998; 105:810-824.
3. Gillingham M, Van Calcar S, Ney D, Wolff J, Harding C. Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD): a case report and survey. J Inherit Metab Dis. 1999;22:123-131.
4. Gillingham MB, Weleber RG, Neuringer M, et al. Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency. Mol Genet Metabol. 2005;86:124-133.
5. Tyni T, Johnson M, Eaton S, Pourfarzam M, Andrews R, Turnbull DM. Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium. Pediatr Res. 2002;52:595- 600.
6. Tyni T, Paetau A, Strauss AW, Middleton B, Kivelaa T. Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydroge- nase deficiency. Pediatr Res. 2004;56:744 -750.
7. Wolfgang MJ, Kurama T, Dai Y, et al. The brain-specific carnitine palmitoyltransferase-1c regulates energy homeostasis. Proc Natl Acad Sci USA. 2006;103:7282-7287.
8. Oey NA, Ruiter JP, Ijlst L, et al. Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain. Biochem Biophys Res Commun. 2006;346:33-37.
9. He M, Rutledge SL, Kelly DR, et al. A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. Am J Hum Genet. 2007;81:87-103.
10. Seigel GM, Sun W, Wang J, Hershberger DH, Campbell LM, Salvi RJ. Neuronal gene expression and function in the growth-stimulated R28 retinal precursor cell line. Curr Eye Res. 2004;28:257-269.
11. Ventura FV, Ruiter J, Ijlst L, de Almeida IT, Wanders RJ. Differential inhibitory effect of long-chain acyl-CoA esters on succinate and glutamate transport into rat liver mitochondria and its possible implications for long-chain fatty acid oxidation defects. Mol Genet Metab. 2005;86:344-352.
12. Prip-Buus C, Thuillier L, Abadi N, et al. Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community. Mol Genet Metab. 2001;73:46-54.
13. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-delta delta C(T)) method. Methods (Duluth). 2001;25:402-408.
14. Wilkinson DG. In Situ Hybridization: A Practical Approach. New York: Oxford University Press; 1992.
15. Fraser F, Corstorphine CG, Zammit VA. Topology of carnitine palmitoyltransferase I in the mitochondrial outer membrane. Bio- chem J. 1997;323:711-718.
16. Faye A, Borthwick K, Esnous C, et al. Demonstration of N- and C-terminal domain intramolecular interactions in rat liver carnitine palmitoyltransferase 1 that determine its degree of malonyl-CoA sensitivity. Biochem J. 2005;387:67-76.
17. Tyni T, Pihko H, Kivelaa T. Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. Curr Eye Res. 1998;17:551-559.
18. + transport. J Neurosci. 1992;12:840 - 853.
19. Carter-Dawson LD, LaVail MM. Rods and cones in the mouse retina, I: structural analysis using light and electron microscopy. J Comp Neurol. 1979;188:245-262.
20. Ensenauer R, He M, Willard JM, et al. Human acyl-CoA dehydroge- nase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids. J Biol Chem. 2005;280:32309 -32316.
21. Dai Y, Wolfgang MJ, Cha SH, Lane MD. Localization and effect of ectopic expression of CPT1c in CNS feeding centers. Biochem Biophys Res Commun. 2007;359:469 - 474.
22. Ventura FV, Tavares de Almeida I, Wanders RJ. Inhibition of ade- nine nucleotide transport in rat liver mitochondria by long-chain acyl-coenzyme A beta-oxidation intermediates. Biochem Biophys Res Commun. 2007;352:873- 878.