Progress in diagnosis and treatment of Leber’s hereditary optic neuropathy

Goldberg I (1992) Ophthalmology clinics of North America. Am J Ophthalmol 113(6):730–731

Article  Google Scholar 

Kellar-Wood H et al (1994) Leber’s hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann Neurol 36(1):109

Article  CAS  PubMed  Google Scholar 

Balsa E et al (2012) NDUFA4 is a subunit of complex IV of the mammalian electron transport chain. Cell Metab 16(3):378–386

Article  CAS  PubMed  Google Scholar 

Zickermann V, Wirth C, Nasiri H, Siegmund K, Schwalbe H, Hunte C, Brandt U (2015) Mechanistic insight from the crystal structure of mitochondrial complex I. Science 347(6217):44–49

Article  CAS  PubMed  Google Scholar 

Moser CC et al (2006) Electron tunneling chains of mitochondria. Biochim Biophys Acta Bioenerg (BBA) 1757(9–10):1096–1109

Fiedorczuk K, Letts JA, Degliesposti G, Kaszuba K, Skehel M, Sazanov LA (2016) Atomic structure of the entire mammalian mitochondrial complex I. Nature 538(7625):406–410

Article  CAS  PubMed  PubMed Central  Google Scholar 

Koopman WJ, Willems PH, Smeitink JA (2012) Monogenic mitochondrial disorders. N Engl J Med 366(12):1132–1141

Article  CAS  PubMed  Google Scholar 

Breuer ME et al (2013) The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases. Neurobiol Dis 51:27–34

Article  CAS  PubMed  Google Scholar 

Yu-Wai-Man P, Griffiths PG, Chinnery PF (2011) Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. Prog Retin Eye Res 30(2):81–114

Article  CAS  PubMed  PubMed Central  Google Scholar 

Newman NJ et al (2020) Visual outcomes in Leber hereditary optic neuropathy patients with the m.11778G>A (MTND4) mitochondrial DNA mutation. J Neuroophthalmol 40(4):547–557

Riordan-Eva P et al (1995) The clinical features of Leber’s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118(Pt 2):319–337

Article  PubMed  Google Scholar 

Sun Y et al (2018) A study of clinical and genetic characteristics of a Leber hereditary optic neuropathy family with the heteroplasmic m.14484T>C mutation. Zhonghua Yan Ke Za Zhi 54(7):526–534

Li S et al (2019) Leber’s hereditary optic neuropathy-specific heteroplasmic mutation m.14495A>G found in a Chinese family. Transl Vis Sci Technol 8(4):3

Smith JL, Hoyt WF, Susac JO (1973) Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol 90(5):349–354

Article  CAS  PubMed  Google Scholar 

Wallace DC (1970) A new manifestation of Leber’s disease and a new explanation for the agency responsible for its unusual pattern of inheritance. Brain 93(1):121–132

Article  CAS  PubMed  Google Scholar 

Funalot B et al (2002) Leigh-like encephalopathy complicating Leber’s hereditary optic neuropathy. Ann Neurol 52(3):374–377

Article  PubMed  Google Scholar 

Nikoskelainen EK et al (1995) Leber’s “plus”: neurological abnormalities in patients with Leber’s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 59(2):160–164

Article  CAS  PubMed  PubMed Central  Google Scholar 

Man PYW (2002) Leber hereditary optic neuropathy. J Med Genet 39(3):162

Danese A et al (2022) Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy. Cell Rep 40(3):111124

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jiang P et al (2016) The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber’s hereditary optic neuropathy-associated mitochondrial DNA mutation. Hum Mol Genet 25(3):584–596

Article  CAS  PubMed  Google Scholar 

Yu J et al (2020) PRICKLE3 linked to ATPase biogenesis manifested Leber’s hereditary optic neuropathy. J Clin Invest 130(9):4935–4946

Article  CAS  PubMed  PubMed Central  Google Scholar 

Giordano C et al (2014) Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy. Brain 137(Pt 2):335–353

Article  PubMed  Google Scholar 

Giordano L et al (2015) Cigarette toxicity triggers Leber’s hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways. Cell Death Dis 6(12):e2021. Nature Publishing Group

Lyseng-Williamson KA (2016) Idebenone: a review in Leber’s hereditary optic neuropathy. Drugs 76(7):805–813

Klopstock T, Yu-Wai-Man P, Dimitriadis K, Rouleau J, Heck S, Bailie M, ... Chinnery PF (2011) A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy. Brain 134(9):2677–2686

Article  PubMed  PubMed Central  Google Scholar 

Newman NJ, Yu-Wai-Man P, Biousse V, Carelli V (2023) Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management. Lancet Neurol 22(2):172–188

Article  CAS  PubMed  Google Scholar 

Carelli V et al (2009) Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. Biochim Biophys Acta 1787(5):518–528

Article  CAS  PubMed  Google Scholar 

Wallace DC, Lott MT (2017) Leber hereditary optic neuropathy: Exemplar of an mtDNA disease. Handb Exp Pharmacol 240:339–376

Article  CAS  PubMed  Google Scholar 

Chang CW, Chang CH, Peng ML (2003) Leber’s hereditary optic neuropathy: a case report. Kaohsiung J Med Sci 19(10):516–520

Article  PubMed  Google Scholar 

Huang C et al (2002) Rapid visual recovery after coenzyme q10 treatment of Leber hereditary optic neuropathy. J Neuroophthalmol 22(1):66

Lin HZ et al (2012) Vision improvement in a Taiwanese (Han Chinese) family with Leber’s hereditary optic neuropathy. Kaohsiung J Med Sci 28(12):679–682

Article  PubMed  Google Scholar 

Patergnani S, Bonora M, Ingusci S, Previati M, Marchi S, Zucchini S, ... Pinton P (2021) Antipsychotic drugs counteract autophagy and mitophagy in multiple sclerosis. Proc Natl Acad Sci 118(24):e2020078118

Guy J et al (2002) Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy. Ann Neurol 52(5):534–542

Article  CAS  PubMed  Google Scholar 

Yuan J, Zhang Y, Liu H, Wang D, Du Y, Tian Z, ... Li B (2020) Seven-year follow-up of gene therapy for Leber’s hereditary optic neuropathy. Ophthalmology 127(8):1125–1127

Article  PubMed  Google Scholar 

Wan X et al (2016) Efficacy and safety of rAAV2-ND4 treatment for Leber’s hereditary optic neuropathy. Sci Rep 6:21587

Article  CAS  PubMed  PubMed Central  Google Scholar 

Guy J, Feuer WJ, Davis JL, Porciatti V, Gonzalez PJ, Koilkonda RD, ... Lam BL (2017) Gene therapy for Leber hereditary optic neuropathy: low-and medium-dose visual results. Ophthalmology 124(11):1621–1634

Article  PubMed  Google Scholar 

Botto C, Rucli M, Tekinsoy MD, Pulman J, Sahel JA, Dalkara D (2022) Early and late stage gene therapy interventions for inherited retinal degenerations. Prog Retin Eye Res 86:100975

Sahel JA et al (2021) Gene therapies for the treatment of Leber hereditary optic neuropathy. Int Ophthalmol Clin 61(4):195–208

Weiss JN, Levy S, Benes SC (2016) Stem Cell Ophthalmology Treatment Study (SCOTS): bone marrow-derived stem cells in the treatment of Leber’s hereditary optic neuropathy. Neural Regen Res 11(10):1685

Article  PubMed  PubMed Central  Google Scholar 

Zekonyte U et al (2021) Mitochondrial targeted meganuclease as a platform to eliminate mutant mtDNA in vivo. Nat Commun 12(1):3210

Article  CAS  PubMed  PubMed Central  Google Scholar 

Willis JCW et al (2022) Compact zinc finger base editors that edit mitochondrial or nuclear DNA in vitro and in vivo. Nat Commun 13(1):7204

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mok BY et al (2020) A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing. Nature 583(7817):631–637

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lim K, Cho SI, Kim JS (2022) Nuclear and mitochondrial DNA editing in human cells with zinc finger deaminases. Nat Commun 13(1):366

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kirkman MA et al (2009) Gene-environment interactions in Leber hereditary optic neuropathy. Brain 132(Pt 9):2317–2326

Article  PubMed  PubMed Central  Google Scholar 

Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF (2009) Inherited mitochondrial optic neuropathies. J Med Genet 46(3):145–158

Article  CAS  PubMed  Google Scholar 

do VF Ramos C et al (2009) Association of optic disc size with development and prognosis of Leber’s hereditary optic neuropathy. Invest Ophthalmol Vis Sci 50(4):1666–1674

Article  Google Scholar 

Mashima Y et al (2017) Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation. BMC Ophthalmol 17(1):192

Article  PubMed  PubMed Central

留言 (0)

沒有登入
gif