Back to article: Mitochondrial dysfunction and its role in tissue-specific cellular stress

TABLE 1. Types of mitochondrial disease caused by mitochondrial encoded genes.

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19. Lebon S, Chol M, Benit P, Mugnier C, Chretien D, Giurgea I, Kern I, Girardin E, Hertz-Pannier L, de Lonlay P, Rötig A, Rustin P, and Munnich A (2003). Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. J Med Genet 40(12): 896–899.

20. Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, and Taylor RW (2003). Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA Neurology 60(8): 1357–1359.

21. Komaki H, Akanuma J, Iwata H, Takahashi T, Mashima Y, Nonaka I, and Goto Y-I (2003). A novel mtDNA C11777A mutation in Leigh syndrome. Mitochondrion 2(4): 293–304.

22. Taylor RW, Morris AA, Hutchinson M, and Turnbull DM (2002). Leigh disease associated with a novel mitochondrial DNA ND5 mutation. Eur J Hum Genet 10(2): 141–144.

23. Kirby DM, Kahler SG, Freckmann ML, Reddihough D, and Thorburn DR (2000). Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann Neurol 48(1): 102–104.

25. Solano A, Roig M, Vives-Bauza C, Hernandez-Peña J, Garcia-Arumi E, Playan A, López-Pérez MJ, Andreu AL, and Montoya J (2003). Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene. Ann Neurol 54(4): 527–530.

26. Ugalde C, Triepels RH, Coenen MJH, Van Den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JAM, and Nijtmans LGJ (2003). Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann Neurol 54(5): 665–669.

27. Wallace D, Singh G, Lott M, Hodge J, Schurr T, Lezza A, Elsas L, and Nikoskelainen E (1988). Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science 242(4884): 1427–1430.

28. Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, Taylor L, and Turnbull DM (1991). Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 49(5): 939–950.

29. Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, and Savontaus ML (1991). A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 48(6): 1147–1153.

30. Brown MD, Voljavec AS, Lott MT, MacDonald I, and Wallace DC (1992). Leber’s hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. FASEB J 6(10): 2791–2799.

31. Howell N, Kubacka I, Xu M, and McCullough DA (1991). Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet 48(5): 935–942.

32. Johns DR, Neufeld MJ, and Park RD (1992). An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Am J Hum Genet 46(3): 428–433.

33. Holt IJ, Harding AE, Petty RK, and Morgan-Hughes JA (1990). A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Biochem Biophys Res Commun 187(3): 1551–1557.

34. Harding AE, Holt IJ, Sweeney MG, Brockington M, and Davis MB (1992). Prenatal diagnosis of mitochondrial DNA8993 T—-G disease. Am J Hum Genet 50(3): 629–633.

35. Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, and Taylor RW (2004). Mutations of the mitochondrial ND1 gene as a cause of MELAS. J Med Genet 41(10): 784–789.

36. Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, and DiMauro S (1997). Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun 238(2): 326–328.

37. Corona P, Antozzi C, Carrara F, D’Incerti L, Lamantea E, Tiranti V, and Zeviani M (2001). A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol 49(1): 106–110.

39. Hanna MG, Nelson IP, Morgan-Hughes JA, and Wood NW (1998). MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. J Neurol Neurosurg Psychiatry 65(4): 512–517.

40. Goto Y, Nonaka I, and Horai S (1990). A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348(6302): 651–653.

41. Sato W, Hayasaka K, Shoji Y, Takahashi T, Takada G, Saito M, Fukawa O, and Wachi E (1994). A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Mol Biol Int 33(6): 1055–1061.

42. Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA, and DiMauro S (1993). Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? J Clin Invest 92(6): 2906–2915.

43. Hayashi J, Ohta S, Takai D, Miyabayashi S, Sakuta R, Goto Y, and Nonaka I (1993). Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function. Biochem Biophys Res Commun 197(3): 1049–1055.

44. Sakuta R, Goto Y, Horai S, and Nonaka I (1993). Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study. J Neurol Sci 115(2): 158–160.

45. Goto Y, Nonaka I, and Horai S (1991). A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta 1097(3): 238–240.

46. Goto YI, Tsugane K, Tanabe Y, Nonaka I, and Horai S (1994). A New Point Mutation at Nucleotide Pair-3291 of the Mitochondrial Transfer-RNALeu(Uur) Gene in a Patient with Mitochondrial Myopathy, Encephalopathy, Lactic-Acidosis, and Stroke-Like Episodes (MELAS). Biochem Biophys Res Commun 202(3): 1624–1630.

47. Bataillard M, Chatzoglou E, Rumbach L, Sternberg D, Tournade A, Laforet P, Jardel C, Maisonobe T, and Lombes A (2001). Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. Neurology 56(3): 405–407.

48. Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, and Wallace DC (1990). Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 61(6): 931–937.

49. Wallace DC, Zheng XX, Lott MT, Shoffner JM, Hodge JA, Kelley RI, Epstein CM, and Hopkins LC (1988). Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 55(4): 601–610.

50. Masucci JP, Davidson M, Koga Y, Schon EA, and King MP (1995). In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes. Mol Cell Biol 15(5): 2872–2881.

51. Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, and DiDonato S (1993). A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. EurJ Hum Genet 1(1): 80–87.

52. Silvestri G, Moraes CT, Shanske S, Oh SJ, and DiMauro S (1992). A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 51(6): 1213–1217.

53. Ozawa M, Nishino I, Horai S, Nonaka I, and Goto Y-I (1997). Myoclonus epilepsy associated with ragged-red fibers: A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families. Muscle Nerve 20(3): 271–278.

55. Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, and Friedman R (1999). Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology 52(9): 1905–1908.

56. Hema Bindu L, and Reddy PP (2009). Genetics of aminoglycocide-induced and prelingual non-syndromic mitochondrial hearing impairment: A review. Int J Audiol 47(11): 702–707.

57. Fischel-Ghodsian N, Prezant TR, Bu X, and Öztas S (1993). Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am J Otolaryngol 14(6): 399–403.

58. Hutchin T, Haworth I, Higashi K, Fischel-Ghodsian N, Stoneking M, Saha N, Arnos C, and Cortopassi G (1993). A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Research 21(18): 4174–4179.

59. Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, and Rotter JI (1993). Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 4(3): 289–294.

60. Lott MT, Leipzig JN, Derbeneva O, Xie HM, Chalkia D, Sarmady M, Procaccio V, and Wallace DC (2013). mtDNA Variation and Analysis Using Mitomap and Mitomaster. Curr Protoc Bioinformatics 44(1): 1.23.1–26.

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