Gene therapy for leber hereditary optic neuropathy initial results

Ophthalmology

Volumn 123, Issue 3, 2016, Pages 558-570

  Feuer, William J ^a   Schiffman, Joyce C ^a   Davis, Janet L ^a   Porciatti, Vittorio ^a   Gonzalez, Phillip ^a   Koilkonda, Rajeshwari D ^a   Yuan, Huijun ^a   Lalwani, Anil ^a   Lam, Byron L ^a   Guy, John ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NEUTRALIZING ANTIBODY; PARVOVIRUS VECTOR; MITOCHONDRIAL DNA; NADH DEHYDROGENASE SUBUNIT 4; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ANTIBODY PRODUCTION; ARTICLE; CATARACT; CLINICAL ARTICLE; CONJUNCTIVAL HEMORRHAGE; ELECTRORETINOGRAPHY; GENE THERAPY; GLAUCOMA; HUMAN; INTRAOCULAR PRESSURE; KERATITIS; LEBER HEREDITARY OPTIC NEUROPATHY; OPTICAL COHERENCE TOMOGRAPHY; OPTICAL COHERENCE TOMOGRAPHY DEVICE; PHASE 1 CLINICAL TRIAL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROSPECTIVE STUDY; RETINA DETACHMENT; SORE THROAT; UVEITIS; VISUAL ACUITY; VISUAL IMPAIRMENT; VITREOUS HEMORRHAGE; ADULT; CLINICAL TRIAL; DEPENDOPARVOVIRUS; FEMALE; GENE VECTOR; GENETICS; INTRAVITREAL DRUG ADMINISTRATION; MALE; MIDDLE AGED; OPTIC ATROPHY, HEREDITARY, LEBER; PATHOPHYSIOLOGY; PERIMETRY; PHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL FIELD;

ADULT; DEPENDOVIRUS; DNA, MITOCHONDRIAL; ELECTRORETINOGRAPHY; FEMALE; GENETIC THERAPY; GENETIC VECTORS; HUMANS; INTRAVITREAL INJECTIONS; MALE; MIDDLE AGED; NADH DEHYDROGENASE; OPTIC ATROPHY, HEREDITARY, LEBER; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS; VISUAL FIELDS;

EID: 84959453256     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2015.10.025     Document Type: Article

References (32)

1. D.C. Wallace, G. Singh, M.T. Lott, and et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Science 242 1988 1427 1430
2. T. Leber Über hereditare und congenital-angelegete Sehnerverleiden Graefe's Archiv für klinische und experimentelle Opthalmologie 7 1871 249 271
3. B.L. Lam, W.J. Feuer, J.C. Schiffman, and et al. Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy: preparation for gene therapy clinical trial JAMA Ophthalmol 132 2014 428 436
4. V. Carelli, A. Ghelli, L. Bucchi, and et al. Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy Ann Neurol 45 1999 320 328
5. S.S. Ghosh, E. Fahy, I. Bodis-Wollner, and et al. Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing Am J Hum Genet 58 1996 325 334
6. I.J. Holt, D.H. Miller, and A.E. Harding Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy J Med Genet 26 1989 739 743
7. Y. Isashiki, and M. Nakagawa Clinical correlation of mitochondrial DNA heteroplasmy and Leber's hereditary optic neuropathy Jpn J Ophthalmol 35 1991 259 267
8. P. Yu-Wai-Man, P.G. Griffiths, G. Hudson, and P.F. Chinnery Inherited mitochondrial optic neuropathies J Med Genet 46 2009 145 158
9. P.Y. Man, P.G. Griffiths, D.T. Brown, and et al. The epidemiology of Leber hereditary optic neuropathy in the North East of England Am J Hum Genet 72 2003 333 339
10. J. Guy, W.J. Feuer, V. Porciatti, and et al. Retinal ganglion cell dysfunction in asymptomatic G11778A: Leber hereditary optic neuropathy Invest Ophthalmol Vis Sci 55 2014 841 848
11. E.A. Schon, S. DiMauro, and M. Hirano Human mitochondrial DNA: roles of inherited and somatic mutations Nat Rev Genet 13 2012 878 890
12. N.J. Newman Treatment of hereditary optic neuropathies Nat Rev Neurol 8 2012 545 556
13. N.J. Newman, V. Biousse, R. David, and et al. Prophylaxis for second eye involvement in Leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite Am J Ophthalmol 140 2005 407 415
14. T. Klopstock, P. Yu-Wai-Man, K. Dimitriadis, and et al. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy Brain 134 2011 2677 2686
15. N. Chadderton, A. Palfi, S. Millington-Ward, and et al. Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy Eur J Hum Genet 21 2013 62 68
16. S.R. Bacman, S.L. Williams, M. Pinto, and et al. Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs Nat Med 19 2013 1111 1113
17. H. Yu, R.D. Koilkonda, T.H. Chou, and et al. Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber's hereditary optic neuropathy in a mouse model Proc Natl Acad Sci U S A 109 2012 E1238 E1247
18. R.D. Koilkonda, and J. Guy Leber's hereditary optic neuropathy-gene therapy: from benchtop to bedside J Ophthalmol 2011 2011 179412
19. E. Perales-Clemente, P. Fernandez-Silva, R. Acin-Perez, and et al. Allotopic expression of mitochondrial-encoded genes in mammals: achieved goal, undemonstrated mechanism or impossible task? Nucleic Acids Res 39 2011 225 234
20. F. Figueroa-Martinez, M. Vazquez-Acevedo, P. Cortes-Hernandez, and et al. What limits the allotopic expression of nucleus-encoded mitochondrial genes? The case of the chimeric Cox3 and Atp6 genes Mitochondrion 11 2011 147 154
21. S. Ellouze, S. Augustin, A. Bouaita, and et al. Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction Am J Hum Genet 83 2008 373 387
22. J. Oca-Cossio, L. Kenyon, H. Hao, and C.T. Moraes Limitations of allotopic expression of mitochondrial genes in mammalian cells Genetics 165 2003 707 720
23. R.E. Gray, R.H. Law, R.J. Devenish, and P. Nagley Allotopic expression of mitochondrial ATP synthase genes in nucleus of Saccharomyces cerevisiae Methods Enzymol 264 1996 369 389
24. G. Manfredi, J. Fu, J. Ojaimi, and et al. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus Nat Genet 30 2002 394 399
25. J. Guy, X. Qi, F. Pallotti, and et al. Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy Ann Neurol 52 2002 534 542
26. H. Cwerman-Thibault, J.A. Sahel, and M. Corral-Debrinski Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations J Inherit Metab Dis 34 2011 327 344
27. C. Calabrese, L. Iommarini, I. Kurelac, and et al. Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cells Cancer Metab 1 2013 11
28. F.U. Hartl, and W. Neupert Protein sorting to mitochondria: evolutionary conservations of folding and assembly Science 247 1990 930 938
29. R.D. Koilkonda, T.H. Chou, V. Porciatti, and et al. Induction of rapid and highly efficient expression of the human ND4 complex I subunit in the mouse visual system by self-complementary adeno-associated virus Arch Ophthalmol 128 2010 876 883
30. R.D. Koilkonda, H. Yu, T.H. Chou, and et al. Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial JAMA Ophthalmol 132 2014 409 420
31. R. Koilkonda, H. Yu, V. Talla, and et al. LHON gene therapy vector prevents visual loss and optic neuropathy induced by G11778A mutant mitochondrial DNA: biodistribution and toxicology profile Invest Ophthalmol Vis Sci 55 2014 7739 7753
32. I.U. Scott, O.D. Schein, S. West, and et al. Functional status and quality of life measurement among ophthalmic patients Arch Ophthalmol 112 1994 329 335