Patient-specific induced pluripotent stem cell—derived RPE cells: Understanding the pathogenesis of retinopathy in long-chain 3-hydroxyacyl-CoA dehydrogenase deiciency

Investigative Ophthalmology and Visual Science

Volumn 56, Issue 5, 2015, Pages 3371-3382

  Polinati, Padmini P ^a   Ilmarinen, Tanja ^b,c   Trokovic, Ras ^a   Hyotylainen, Tuulia ^d   Otonkoski, Timo ^a,e   Suomalainen, Anu ^a,e   Skottman, Heli ^b,c   Tynitiina, Tiina ^a,e  

^a UNIVERSITY OF HELSINKI   (Finland)

^b TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^c TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^d VTT TECHNICAL RESEARCH CENTRE OF FINLAND   (Finland)

^e UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

Author keywords

Beta oxidation; Mitochondria; Retinal pigment epithelium; Retinopathy

Indexed keywords

LONG CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE; MELANOCYTE PROTEIN PMEL 17; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; PIGMENT EPITHELIUM DERIVED FACTOR; PROTEIN; RPE65 PROTEIN; TRANSCRIPTION FACTOR OTX2; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; BIOLOGICAL MARKER; LIPID;

ARTICLE; CELL DIFFERENTIATION; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; ENZYME DEFICIENCY; FIBROBLAST; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; LIPID STORAGE; LIPIDOMICS; MASS SPECTROMETRY; NUCLEAR REPROGRAMMING; PATHOGENESIS; PHAGOCYTOSIS; PIGMENT EPITHELIUM; PIGMENTATION; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; RETINOPATHY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANSMISSION ELECTRON MICROSCOPY; CELL CULTURE; CELL LINE; CYTOLOGY; DEFICIENCY; ENZYMOLOGY; EPITHELIUM CELL; IMMUNOHISTOCHEMISTRY; METABOLISM; MITOCHONDRION; PATHOLOGY; RETINA DISEASE; ULTRASTRUCTURE;

BIOLOGICAL MARKERS; CELL LINE; CELLS, CULTURED; EPITHELIAL CELLS; HUMANS; IMMUNOHISTOCHEMISTRY; INDUCED PLURIPOTENT STEM CELLS; LIPIDS; LONG-CHAIN-3-HYDROXYACYL-COA DEHYDROGENASE; MASS SPECTROMETRY; MITOCHONDRIA; RETINAL DISEASES; RETINAL PIGMENT EPITHELIUM;

EID: 84939639353     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-14007     Document Type: Article

References (23)

1. Tyni T, Pihko H. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Acta Paediatr. 1999;88:237-245.
2. 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 MetabDis. 1999;22:123-131.
3. Tyni T, Kivela 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.
4. Tyni T, Immonen T, Lindahl P, Majander A, Kivela T. Refined staging for chorioretinopathy in long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency. Ophthalmic Res. 2012;48:75-81.
5. Tyni T, Pihko H, Kivela T. Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. Curr Eye Res. 1998;17:551-559.
6. Fletcher AL, Pennesi ME, Harding CO, Weleber RG, Gillingham MB. Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. Mol Genet Metab. 2012; 106:18-24.
7. 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.
8. Ventura FV, Tavares de Almeida I, Wanders RJ. Inhibition of adenine nucleotide transport in rat liver mitochondria by long-chain acyl-coenzyme A beta-oxidation intermediates. Biochem Biophys Res Commun. 2007;352:873-878.
9. 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.
10. Tyni T, Paetau A, Strauss AW, Middleton B, Kivela T. Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res. 2004;56:744-750.
11. Strauss O. The retinal pigment epithelium in visual function. Physiol Rev. 2005;85:845-881.
12. Trokovic R, Weltner J, Manninen T, et al. Small molecule inhibitors promote efficient generation of induced pluripotent stem cells from human skeletal myoblasts. Stem Cells Dev. 2013;22:114-123.
13. Toivonen S, Ojala M, Hyysalo A, et al. Comparative analysis of targeted differentiation of human induced pluripotent stem cells (hiPSCs) and human embryonic stem cells reveals variability associated with incomplete transgene silencing in retrovirally derived hiPSC lines. Stem Cells Transl Med. 2013; 2:83-93.
14. Hussein SM, Batada NN, Vuoristo S, et al. Copy number variation and selection during reprogramming to pluripotency. Nature. 2011;471:58-62.
15. Vaajasaari H, Ilmarinen T, Juuti-Uusitalo K, et al. Toward the defined and xeno-free differentiation of functional human pluripotent stem cell-derived retinal pigment epithelial cells. Mol Vis. 2011;17:558-575.
16. Robciuc A, Hyotylainen T, Jauhiainen M, Holopainen JM. Hyperosmolarity-induced lipid droplet formation depends on ceramide production by neutral sphingomyelinase 2. J Lipid Res. 2012;53:2286-2295.
17. Juuti-Uusitalo K, Delporte C, Gregoire F, et al. Aquaporin expression and function in human pluripotent stem cell-derived retinal pigmented epithelial cells. Invest Ophthalmol Vis Sci. 2013;54:3510-3519.
18. Fahnehjelm KT, Holmstrom G, Ying L, et al. Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. Acta Ophthalmol. 2008;86:329-337.
19. Rozanowski B, Burke JM, Boulton ME, Sarna T, Rozanowska M. Human RPE melanosomes protect from photosensitized and iron-mediated oxidation but become pro-oxidant in the presence of iron upon photodegradation. Invest Ophthalmol Vis Sci. 2008;49:2838-2847.
20. Bonilha VL. Age and disease-related structural changes in the retinal pigment epithelium. Clin Ophthalmol. 2008;2:413-424.
21. Burke JM, Kaczara P, Skumatz CM, Zareba M, Raciti MW, Sarna T. Dynamic analyses reveal cytoprotection by RPE melano-somes against non-photic stress. Mol Vis. 2011;17:2864-2877.
22. Roomets E, Kivela T, Tyni T. Carnitine palmitoyltransferase I and acyl-CoA dehydrogenase 9 in retina: insights of retinopathy in mitochondrial trifunctional protein defects. Invest Ophthalmol Vis Sci. 2008;49:1660-1664.
23. Meyer JS, Howden SE, Wallace KA, et al. Optic vesicle-like structures derived from human pluripotent stem cells facilitate a customized approach to retinal disease treatment. Stem Cells. 2011;29:1206-1218.