Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome

Mitochondrion - Tập 62 - Trang 13-23 - 2022
Manting Xu1, Robert Kopajtich2,3, Matthias Elstner4, Hua Li1, Zhimei Liu1, Junling Wang1, Holger Prokisch2,3, Fang Fang1
1Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
2Institute of Human Genetics, Technical University of Munich, Munich 81675, Germany
3Institute of Neurogenomics, Helmholtz Zentrum München, Munich 85764, Germany
4Department of Neurology, Technical University of Munich, School of Medicine, Munich 81675, Germany

Tài liệu tham khảo

Adzhubei, I., Jordan, D.M., Sunyaev, S.R., 2013. Predicting functional effect of human missense mutations using PolyPhen-2. Current protocols in human genetics Chapter 7, Unit7.20. Arii, 2000, Leigh syndrome: serial MR imaging and clinical follow-up, AJNR Am. J. Neuroradiol., 21, 1502 Baertling, 2014, A guide to diagnosis and treatment of Leigh syndrome, J. Neurol. Neurosurg. Psychiatry, 85, 257, 10.1136/jnnp-2012-304426 Choi, 2015, PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels, Bioinformatics, 31, 2745, 10.1093/bioinformatics/btv195 Chomyn, 1996, Platelet-mediated transformation of human mitochondrial DNA-less cells, Methods Enzymol., 264, 334, 10.1016/S0076-6879(96)64031-2 Delmiro, 2013, Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome, Hum. Mutat., 34, 1623, 10.1002/humu.22445 Fedor, 2017, Correlating kinetic and structural data on ubiquinone binding and reduction by respiratory complex I, PNAS, 114, 12737, 10.1073/pnas.1714074114 Gershoni, 2010, Coevolution predicts direct interactions between mtDNA-encoded and nDNA-encoded subunits of oxidative phosphorylation complex i, J. Mol. Biol., 404, 158, 10.1016/j.jmb.2010.09.029 Gorman, G.S., Blakely, E.L., Hornig-Do, H.T., Tuppen, H.A., Greaves, L.C., He, L., Baker, A., Falkous, G., Newman, J., Trenell, M.I., Lecky, B., Petty, R.K., Turnbull, D.M., McFarland, R., Taylor, R.W., 2015. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. Clinical science (London, England: 1979) 128, 895-904. Grady, J.P., Pickett, S.J., Ng, Y.S., Alston, C.L., Blakely, E.L., Hardy, S.A., Feeney, C.L., Bright, A.A., Schaefer, A.M., Gorman, G.S., McNally, R.J., Taylor, R.W., Turnbull, D.M., McFarland, R., 2018. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. EMBO molecular medicine 10. Hayashi, 2015, Oxidative stress in inherited mitochondrial diseases, Free Radical Biol. Med., 88, 10, 10.1016/j.freeradbiomed.2015.05.039 Ji, 2020, Mitochondrial encephalopathy Due to a Novel Pathogenic Mitochondrial tRNA(Gln) m.4349C>T Variant, Ann. Clin. Transl. Neurol., 7, 980, 10.1002/acn3.51069 Ji, 2014, Novel mitochondrial C15620A variant may modulate the phenotype of mitochondrial G11778A mutation in a Chinese family with Leigh syndrome, NeuroMol. Med., 16, 119, 10.1007/s12017-013-8264-8 Jia, 2019, A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis, Nucleic Acids Res., 47, 2056, 10.1093/nar/gky1241 Koshikawa, 2017, Association of predicted pathogenic mutations in mitochondrial ND genes with distant metastasis in NSCLC and colon cancer, Sci. Rep., 7, 15535, 10.1038/s41598-017-15592-2 Kremer, 2017, Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines, Methods Mol. Biol., 1567, 391, 10.1007/978-1-4939-6824-4_24 La Morgia, 2014, Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions, BMC Neurol, 14, 116, 10.1186/1471-2377-14-116 Lake, 2016, Leigh syndrome: One disorder, more than 75 monogenic causes, Ann. Neurol., 79, 190, 10.1002/ana.24551 Lightowlers, 2015, Mutations causing mitochondrial disease: What is new and what challenges remain?, Science, 349, 1494, 10.1126/science.aac7516 Lobo-Jarne, 2018, Respiratory chain supercomplexes: Structures, function and biogenesis, Semin. Cell Dev. Biol., 76, 179, 10.1016/j.semcdb.2017.07.021 Moslemi, 2008, Progressive encephalopathy and complex I deficiency associated with mutations in MTND1, Neuropediatrics, 39, 24, 10.1055/s-2008-1076739 Murphy, 2016, Understanding and preventing mitochondrial oxidative damage, Biochem. Soc. Trans., 44, 1219, 10.1042/BST20160108 Negishi, 2014, Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome, J. Hum. Genet., 59, 405, 10.1038/jhg.2014.41 Ogawa, 2017, Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients, J. Inherit. Metab. Dis., 40, 685, 10.1007/s10545-017-0042-6 Parey, 2020, Respiratory complex I - structure, mechanism and evolution, Curr. Opin. Struct. Biol., 63, 1, 10.1016/j.sbi.2020.01.004 Pejaver, 2020, Inferring the molecular and phenotypic impact of amino acid variants with MutPred2, Nat. Commun., 11, 5918, 10.1038/s41467-020-19669-x Porras, 2015, Respiratory supercomplexes: plasticity and implications, Front. Biosci. (Landmark edition), 20, 621, 10.2741/4327 Qian, 2019, Chemoptogenetic damage to mitochondria causes rapid telomere dysfunction, PNAS, 116, 18435, 10.1073/pnas.1910574116 Rahman, 2017, Leigh map: A novel computational diagnostic resource for mitochondrial disease, Ann. Neurol., 81, 9, 10.1002/ana.24835 Scheffler, 2015, Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency, J. Inherit. Metab. Dis., 38, 405, 10.1007/s10545-014-9768-6 Sofou, 2014, A multicenter study on Leigh syndrome: disease course and predictors of survival, Orphanet J Rare Dis, 9, 52, 10.1186/1750-1172-9-52 Valente, 2009, Identification of novel mutations in five patients with mitochondrial encephalomyopathy, BBA, 1787, 491 Vartak, 2014, An update on complex I assembly: the assembly of players, J. Bioenerg. Biomembr., 46, 323, 10.1007/s10863-014-9564-x Wong, 2020, Clinical and laboratory interpretation of mitochondrial mRNA variants, Hum. Mutat., 10.1002/humu.24082 Zhang, 2014, Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families, Mitochondrion, 18, 18, 10.1016/j.mito.2014.08.008 Zhao, 2019, Hypertension-associated mitochondrial DNA 4401A>G mutation caused the aberrant processing of tRNAMet, all 8 tRNAs and ND6 mRNA in the light-strand transcript, Nucleic Acids Res., 47, 10340, 10.1093/nar/gkz742 Zhou, 2012, Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families, Invest. Ophthalmol. Vis. Sci., 53, 4586, 10.1167/iovs.11-9109 Zickermann, 2015, Structural biology. Mechanistic insight from the crystal structure of mitochondrial complex I, Science, 347, 44, 10.1126/science.1259859