Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients

Molecular Genetics and Metabolism Reports - Tập 27 - Trang 100733 - 2021
Mariana Amina Loos1, Gimena Gomez2, Lía Mayorga3, Roberto Horacio Caraballo1, Hernán Diego Eiroa4, María Gabriela Obregon5, Carlos Rugilo6, Fabiana Lubieniecki7, Ana Lía Taratuto8, María Saccoliti8, Cristina Noemi Alonso2, Hilda Verónica Aráoz5
1Department of Neurology, Hospital de Pediatría "Juan P. Garrahan", Combate de los Pozos 1881, Buenos Aires 1245, Argentina
2Genomics Laboratory, Hospital de Pediatría "Juan P. Garrahan", Combate de los Pozos 1881, Buenos Aires 1245, Argentina
3Instituto de Histología y Embriología de Mendoza (IHEM, Universidad Nacional de Cuyo, CONICET), Centro Universitario UNCuyo, 5500 Mendoza, Argentina
4Department of Inborn Errors of Metabolism, Hospital de Pediatría "Juan P. Garrahan", Combate de los Pozos 1881, Buenos Aires, 1245, Argentina
5Department of Medical Genetics, Hospital de Pediatría "Juan P. Garrahan", Combate de los Pozos 1881, Buenos Aires 1245, Argentina
6Department of DiagnosticImaging, Hospital de Pediatría "Juan P. Garrahan", Combate de los Pozos 1881, Buenos Aires 1245, Argentina
7Department of Pathology, Hospital de Pediatría "Juan P. Garrahan", Combate de los Pozos 1881, Buenos Aires 1245, Argentina
8Neuropathology and Neuromuscular Diseases Laboratory, Buenos Aires, Argentina

Tài liệu tham khảo

Rahman, 2020, Mitochondrial disease in children, J. Intern. Med., 287, 609, 10.1111/joim.13054 Thorburn, 2004, Mitochondrial disorders: prevalence, myths and advances, J. Inherit. Metab. Dis., 27, 349, 10.1023/B:BOLI.0000031098.41409.55 Chinnery, 2013, Mitochondrial genetics, Br. Med. Bull., 106, 135, 10.1093/bmb/ldt017 DiMauro, 2013, The clinical maze of mitochondrial neurology, Nat. Rev. Neurol., 9, 429, 10.1038/nrneurol.2013.126 Orsucci, 2018, Revealing the complexity of mitochondrial DNA-related disorders, EBioMedicine., 30, 3, 10.1016/j.ebiom.2018.03.007 Holt, 1988, Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies, Nature., 331, 717, 10.1038/331717a0 Wallace, 1988, Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy, Science (80-. ), 242, 1427, 10.1126/science.3201231 Schon, 2012, Human mitochondrial DNA: roles of inherited and somatic mutations, Nat. Rev. Genet., 13, 878, 10.1038/nrg3275 Davison, 2017, Recognition, investigation and management of mitochondrial disease, Arch. Dis. Child., 102, 1082, 10.1136/archdischild-2016-311370 Thompson, 2020, Recent advances in understanding the molecular genetic basis of mitochondrial disease, J. Inherit. Metab. Dis., 43, 36, 10.1002/jimd.12104 Parikh, 2015, Diagnosis and management of mitochondrial disease: a consensus statement from the mitochondrial medicine society, Genet. Med., 17, 689, 10.1038/gim.2014.177 Morava, 2015, Next generation mitochondrial disease: change in diagnostics with eyes on therapy, J. Inherit. Metab. Dis., 38, 387, 10.1007/s10545-015-9852-6 Brautbar, 2008, The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle, Mol. Genet. Metab., 94, 485, 10.1016/j.ymgme.2008.04.004 Mayorga, 2016, Mitochondrial DNA deletions detected by multiplex Ligation-Dependent probe amplification, Mitochondrial DNA, 27, 2864, 10.3109/19401736.2015.1053132 Mayorga, 2019, Mitochondrial stress triggers a pro-survival response through epigenetic modifications of nuclear DNA, Cell. Mol. Life Sci., 76, 1397, 10.1007/s00018-019-03008-5 Mayorga, 2019, Maternally inherited Leigh syndrome detected by multiplex ligation-dependent probe amplification, Mitochondrial DNA Part B., 4, 530, 10.1080/23802359.2018.1553510 Kirby, 2008, Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders, Twin Res. Hum. Genet., 11, 395, 10.1375/twin.11.4.395 Jou, 2019, 8, 68, J. Clin. Med. Artic. J. Clin. Med, 8, 68 Keshavan, 2018, Natural history of mitochondrial disorders: a systematic review, Essays Biochem., 62, 423, 10.1042/EBC20170108 Gorman, 2016, Mitochondrial diseases, Nat. Rev. Dis. Prim., 2, 16080, 10.1038/nrdp.2016.80 Thorburn, 2014, Mitochondrial DNA-associated leigh syndrome and NARP, GeneReviews., 1 Horvath, 2009, Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy, Brain., 132, 3165, 10.1093/brain/awp221 Craig, 2007, Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation, J. Med. Genet., 44, 797, 10.1136/jmg.2007.052902 Diogo, 2009, Pediatric mitochondrial respiratory chain disorders in the centro region of Portugal, Pediatr. Neurol., 40, 351, 10.1016/j.pediatrneurol.2008.11.012 Nissenkorn, 2000, Neurologic presentations of mitochondrial disorders, J. Child Neurol., 15, 44, 10.1177/088307380001500110 Xing, 2007, Mitochondrial rRNA and tRNA and hearing function, Cell Res., 17, 227, 10.1038/sj.cr.7310124 Zheng, 2012, Mitochondrial tRNA mutations associated with deafness, Mitochondrion., 12, 406, 10.1016/j.mito.2012.04.001 Haas, 2008, The in-depth evaluation of suspected mitochondrial disease, Mol. Genet. Metab., 94, 16, 10.1016/j.ymgme.2007.11.018 Couser, 2017, In biomarkers in inborn errors of metabolism, Clin. Asp. Lab. Determ., 2, 167 Ng, 2019, Consensus-based statements for the management of mitochondrial stroke-like episodes, Wellcome Open Res., 4, 10.12688/wellcomeopenres.15599.1 Hongo, 2019, A cluster of disseminated small cortical lesions in MELAS: its distinctive clinical and neuroimaging features, J. Neurol., 266 Iizuka, 2002, Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome, Neurology., 59, 816, 10.1212/WNL.59.6.816 Muramatsu, 2019, Cerebellar hyperintensity lesions on diffusion-weighted MRI in MELAS, Intern. Med., 58, 1797, 10.2169/internalmedicine.2190-18 Oyama, 2020, Neuroimaging pattern and pathophysiology of cerebellar stroke-like lesions in MELAS with m.3243A>G mutation: a case report, BMC Neurol., 20, 10.1186/s12883-020-01748-7 Finsterer, 2006, Central nervous system manifestations of mitochondrial disorders, Acta Neurol. Scand., 114, 217, 10.1111/j.1600-0404.2006.00671.x Boczonadi, 2015, Reversible infantile mitochondrial diseases, J. Inherit. Metab. Dis., 38, 427, 10.1007/s10545-014-9784-6 Blakely, 2013, Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease, Hum. Mutat., 34, 1260, 10.1002/humu.22358 Lamont, 1998, Clinical and laboratory findings in referrals for mitochondrial DNA analysis, Arch. Dis. Child., 79, 22, 10.1136/adc.79.1.22 Sue, 1999, Infantile encephalopathy associated with the MELAS A3243G mutation, J. Pediatr., 134, 696, 10.1016/S0022-3476(99)70283-0 Ruhoy, 2014, The genetics of leigh syndrome and its implications for clinical practice and risk management, Appl. Clin. Genet., 7, 221 Rantamäki, 2005, Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T→C mutation, Ann. Neurol., 58, 337, 10.1002/ana.20555 White, 1999, Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993, Am. J. Hum. Genet., 65, 474, 10.1086/302488 Stendel, 2020, Delineating MT-ATP6 -associated disease: From isolated neuropathy to early onset neurodegeneration, Neurol. Genet., 6, 10.1212/NXG.0000000000000393 Castagna, 2007, Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA, Am. J. Med. Genet. Part A., 143, 808, 10.1002/ajmg.a.31637 Childs, 2007, Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene, Neuropediatrics., 38, 313, 10.1055/s-2008-1065355 Takada, 2020, Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: expanding the clinical spectrum, Brain Dev., 42, 69, 10.1016/j.braindev.2019.08.006 Jun, 1994, A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia, Proc. Natl. Acad. Sci. U. S. A., 91, 6206, 10.1073/pnas.91.13.6206 Shoffner, 1995, Leber’s hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation, Ann. Neurol., 38, 163, 10.1002/ana.410380207 Kirby, 2000, Leigh disease cause by the mitochondrial DNA G14459A mutation in unrelated families, Ann. Neurol., 48, 102, 10.1002/1531-8249(200007)48:1<102::AID-ANA15>3.0.CO;2-M Ronchi, 2011, Clinical and molecular features of an infant patient affected by Leigh disease associated to m.14459G > A mitochondrial DNA mutation: a case report, BMC Neurol., 11, 10.1186/1471-2377-11-85 Rötig, 1995, Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome, Hum. Mol. Genet., 4, 1327, 10.1093/hmg/4.8.1327 Pitceathly, 2012, Single deletions in mitochondrial DNA - molecular mechanisms and disease phenotypes in clinical practice, Neuromuscul. Disord., 22, 577, 10.1016/j.nmd.2012.03.009 Grady, 2014, Disease progression in patients with single, large-scale mitochondrial DNA deletions, Brain., 137, 323, 10.1093/brain/awt321 Kirby, 2003, Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh’s disease, Ann. Neurol., 54, 473, 10.1002/ana.10687