1. Gorman GS, Chinnery PF, DiMauro S, et al. Mitochondrial diseases. Nat Rev Dis Primers. 2016; 2:16080
2. Das M, Alzaid F, Bayry J. Regulatory T cells under the mercy of mitochondria. Cell Metab. 2019;29(2):243–245
3. Naon D, Scorrano L. At the right distance: ER-mitochondria juxtaposition in cell life and death. Biochim Biophys Acta. 2014;1843(10):2184–2194
4. Wang H, Han Y, Li S, et al. Mitochondrial DNA depletion syndrome and its associated cardiac disease. Front Cardiovasc Med. 2022; 8:808115
5. Madeira VMC. Overview of mitochondrial bioenergetics. Methods Mol Biol. 2018; 1782:1–6
6. Rath S, Sharma R, Gupta R, et al. MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations. Nucleic Acids Res. 2021;49(D1): D1541–D1547
7. DiMauro S, Schon EA, Carelli V, Hirano M. The clinical maze of mitochondrial neurology. Nat Rev Neurol. 2013;9(8):429–444
8. Gusic M, Prokisch H. Genetic basis of mitochondrial diseases. FEBS Lett. 2021;595(8):1132–1158
9. Imai-Okazaki A, Kishita Y, Kohda M, et al. Cardiomyopathy in children with mitochondrial disease: prognosis and genetic background. Int J Cardiol. 2019; 279:115–121
10. Rahman J, Rahman S. Mitochondrial medicine in the omics era. Lancet. 2018;391(10139):2560–2574
11. Emmanuele V, Ganesh J, Vladutiu G, et al; North American Mitochondrial Disease Consortium (NAMDC). Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC). Mol Genet Metab. 2022;136(2):125–131
12. Parikh S, Karaa A, Goldstein A, et al. Diagnosis of ‘possible’ mitochondrial disease: an existential crisis. J Med Genet. 2019;56(3):123–130
13. Parikh S, Goldstein A, Koenig MK, et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015;17(9):689–701
14. Haas RH, Parikh S, Falk MJ, et al; Mitochondrial Medicine Society’s Committee on Diagnosis. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab. 2008;94(1):16–37
15. Honzik T, Tesarova M, Magner M, et al. Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. J Inherit Metab Dis. 2012;35(5):749–759
16. Witters P, Saada A, Honzik T, et al. Revisiting mitocondrial diagnostic criteria in the new era of genomics. Genet Med. 2018;20(4):444–451
17. Murayama K, Shimura M, Liu Z, Okazaki Y, Ohtake A. Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases. J Hum Genet. 2019;64(2):113–125
18. Imai-Okazaki A, Kishita Y, Kohda M, et al. Barth syndrome: different approaches to diagnosis. J Pediatr. 2018; 193:256–260
19. Clarke SL, Bowron A, Gonzalez IL, et al. Barth syndrome. Orphanet J Rare Dis. 2013; 8:23
20. Maresca A, Del Dotto V, Romagnoli M, et al. Expanding and validating the biomarkers for mitochondrial diseases. J Mol Med (Berl). 2020;98(10):1467–1478
21. Forsstrom S, Jackson CB, Carroll CJ, et al. Fibroblast growth factor € 21 drives dynamics of local and systemic stress responses in mitochondrial myopathy with mtDNA deletions. Cell Metab. 2019;30(6):1040–1054.e7
22. Johann K, Kleinert M, Klaus S. The role of GDF15 as a myomitokine. Cells. 2021;10(11):2990 10.3390/cells10112990
23. Chung HK, Ryu D, Kim KS, et al. Growth differentiation factor 15 is a myomitokine governing systemic energy homeostasis. J Cell Biol. 2017;216(1):149–165
24. Tezze C, Romanello V, Sandri M. FGF21 as modulator of metabolism in health and disease. Front Physiol. 2019; 10:419
25. Lehtonen JM, Auranen M, Darin N, et al. Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle simple in mitochondrial disease. J Inherit Metab Dis. 2021;44(2):469–480
26. Zeviani M, Carelli V. Mitochondrial retinopathies. Int J Mol Sci. 2021;23(1):210 10.3390/ijms23010210
27. Hutchin TP, Cortopassi GA. Mitochondrial defects and hearing loss. Cell Mol Life Sci. 2000;57(13-14):1927–1937
28. Alves CAPF, Gonc¸alves FG, Grieb D, Lucato LT, Goldstein AC, Zuccoli G. Neuroimaging of mitochondrial cytopathies. Top Magn Reson Imaging. 2018;27(4):219–240
29. Tolomeo D, Orsucci D, Nesti C, et al. The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study. J Clin Med. 2021;10(15):322210.3390/jcm10153222
30. Pillen S, Morava E, Van Keimpema M, et al. Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system. Neuropediatrics. 2006;37(3):142–147
31. Wortmann SB, Koolen DA, Smeitink JA, van den Heuvel L, Rodenburg RJ. Whole exome sequencing of suspected mitochondrial patients in clinical practice. J Inherit Metab Dis. 2015;38(3):437–443
32. Lieber DS, Calvo SE, Shanahan K, et al. Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 2013;80(19):1762–1770
33. Pronicka E, Piekutowska-Abramczuk D, Ciara E, et al. New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre. J Transl Med. 2016;14(1):174
34. Hu C, Li X, Zhao L, et al. Clinical and molecular characterization of pediatric mitochondrial disorders in south of China. Eur J Med Genet. 2020;63(8):103898
35. Ohtake A, Murayama K, Mori M, et al. Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification. Biochim Biophys Acta. 2014;1840(4):1355–1359
36. Taylor RW, Pyle A, Griffin H, et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014;312(1):68–77
37. Cui H, Li F, Chen D, et al. Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders. Genet Med. 2013;15(5):388–394
38. Wortmann SB, Mayr JA, Nuoffer JM, Prokisch H, Sperl W. A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle and skin biopsies in the genetics era. Neuropediatrics. 2017;48(4):309–314
39. Riley LG, Cowley MJ, Gayevskiy V, et al. The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. Genet Med. 2020;22(7):1254–1261
40. Rius R, Compton AG, Baker NL, et al. Application of genome sequencing from blood to diagnose mitochondrial diseases. Genes (Basel). 2021;12(4):607 10.3390/genes12040607
41. Raymond FL, Horvath R, Chinnery PF. First-line genomic diagnosis of mitochondrial disorders. Nat Rev Genet. 2018;19(7):399–400
42. Husami A, Slone J, Brown J, Bromwell M, Valencia CA, Huang T. Clinical utility of whole genome sequencing for the detection of mitochondrial genome mutations. J Genet Genomics. 2020;47(3):167–169
43. Schon KR, Horvath R, Wei W, et al; Genomics England Research Consortium. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. BMJ. 2021;375: e066288
44. Turro E, Astle WJ, Megy K, et al; NIHR BioResource for the 100,000 Genomes Project. Whole-genome sequencing of patients with rare diseases in a national health system. Nature. 2020;583(7814):96–102
45. Ouyang X, Zhang Y, Zhang L, et al. Clinical utility of rapid exome sequencing combined with mitochondrial DNA sequencing in critically ill pediatric patients with suspected genetic disorders. Front Genet. 2021; 12:725259
46. Akesson LS, Eggers S, Love CJ, et al. Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitocondrial genome sequencing in tandem with exome sequencing. Eur J Hum Genet. 2019;27(12):1821–1826
47. de Laat P, Koene S, van den Heuvel LP, Rodenburg RJ, Janssen MC, Smeitink JA. Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation. J Inherit Metab Dis. 2012;35(6):1059–1069
48. Hardy SA, Blakely EL, Purvis AI, et al. Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy. Neurol Genet. 2016;2(4): e82
49. von Kleist-Retzow JC, Cormier-Daire V, Viot G, et al. Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr. 2003;143(2):208–212
50. Tavares MV, Santos MJ, Domingues AP, et al. Antenatal manifestations of mitochondrial disorders. J Inherit Metab Dis. 2013;36(5):805–811
51. Gibson K, Halliday JL, Kirby DM, Yaplito-Lee J, Thorburn DR, Boneh A. Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses. Pediatrics. 2008;122(5):1003–1008
52. Gire C, Girard N, Nicaise C, Einaudi MA, Montfort MF, Dejode JM. Clinical features and neuroradiological findings of mitochondrial pathology in six neonates. Childs Nerv Syst. 2002;18(11):621–628
53. Steward CG, Newbury-Ecob RA, Hastings R, et al. Barth syndrome: An X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn. 2010;30(10):970–976
54. Chung J, Lee MY, Chung JH, Won HS. Extremely Rare Case of Fetal Anemia Due to Mitochondrial Disease Managed with Intrauterine Transfusion. Medicina (Kaunas). 2022;58(3):328
55. Wild KT, Goldstein AC, Muraresku C, Ganetzky RD. Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature. Am J Med Genet A. 2020;182(2):365–373
56. Ebihara T, Nagatomo T, Sugiyama Y, et al. Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis. Arch Dis Child Fetal Neonatal Ed. 2022;107(3):329–334
57. del Mar O’Callaghan M, Emperador S, Lopez-Gallardo E, et al. New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. Neurogenetics. 2012;13(3):245–250
58. Ware SM, El-Hassan N, Kahler SG, et al. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitocondrial ATPase 6 and 8 genes. J Med Genet. 2009;46(5):308–314
59. Uziel G, Ghezzi D, Zeviani M. Infantile mitocondrial encephalopathy. Semin Fetal Neonatal Med. 2011;16(4):205–215
60. El-Hattab AW, Craigen WJ, Scaglia F. Mitochondrial DNA maintenance defects. Biochim Biophys Acta Mol Basis Dis. 2017; 1863(6):1539–1555
61. Ramon J, Vila-Julia F, Molina-Granada D, et al. Therapy prospects for mitochondrial DNA Maintenance Disorders. Int J Mol Sci. 2021;22(12):6447
62. Dai H, Zhang VW, El-Hattab AW, et al. FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 2017;91(4):634–639
63. Keshavan N, Abdenur J, Anderson G, et al. The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. Genet Med. 2020;22(1):199–209
64. Rahman S, Copeland WC. POLG-related disorders and their neurological manifestations. Nat Rev Neurol. 2019;15(1):40–52
65. Nogueira C, de Souza CF, Husny A, Derks TG, Santorelli FM, Vilarinho L. MPV17: fatal hepatocerebral presentation in a Brazilian infant. Mol Genet Metab. 2012;107(4):764
66. Franklin AD, Chaudhari BP, Koboldt DC, Machut KZ. Polymerase gamma mitochondrial DNA depletion syndrome initially presenting as disproportionate respiratory distress in a moderately premature neonate: a case report. Front Genet. 2021; 12:664278
67. Shimura M, Kuranobu N, Ogawa-Tominaga M, et al. Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation. Orphanet J Rare Dis. 2020;15(1):169
68. El-Hattab AW, Wang J, Dai H, et al. MPV17-related mitocondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Hum Mutat. 2018;39(4):461–470
69. Mahjoub G, Habibzadeh P, Dastsooz H, et al. Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series. BMC Med Genet. 2019;20(1):167
70. Huang AC, Ebel NH, Romero D, et al. Outcomes after liver transplantation in MPV17 deficiency (Navajo neurohepatopathy): a single-center case series. Pediatr Transplant. 2022;26(5): e14274
71. Garone C, Taylor RW, Nascimento A, et al. Retrospective natural history of thymidine kinase 2 deficiency. J Med Genet. 2018;55(8):515–521
72. Berardo A, Domınguez-Gonzalez C, Engelstad K, Hirano M. Advances in thymidine kinase 2 deficiency: clinical aspects, translational progress, and emerging therapies. J Neuromuscul Dis. 2022;9(2):225–235
73. Bakare AB, Lesnefsky EJ, Iyer S. Leigh syndrome: a tale of two genomes. Front Physiol. 2021; 12:693734
74. Sofou K, De Coo IF, Isohanni P, et al. A multicenter study on Leigh syndrome: disease course and predictors of survival. Orphanet J Rare Dis. 2014; 9:52
75. Malfatti E, Bugiani M, Invernizzi F, et al. Novel mutations of ND genes in complex I deficiency associated with mitocondrial encephalopathy. Brain. 2007;130(Pt 7):1894–1904
76. Chang X, Wu Y, Zhou J, Meng H, Zhang W, Guo J. A metaanalysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations. Medicine (Baltimore). 2020;99(5): e18634
77. Leshinsky-Silver E, Lev D, Tzofi-Berman Z, et al. Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitocondrial ND3 gene. Biochem Biophys Res Commun. 2005;334(2):582–587
Comentarios
Para ver los comentarios de sus colegas o para expresar su opinión debe ingresar con su cuenta de IntraMed.