Mitochondrial DNA defects: A widening clinical spectrum of disorders

Clinical Science

Volumn 92, Issue 3, 1997, Pages 225-235

  Sherratt, Emma J ^a   Thomas, Andrew W ^a   Alcolado, John C ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Diabetes, genetics; Mitochondria; Mitochondrial dna

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AGED; AGING; DNA REPLICATION; EDITORIAL; FEMALE; GENE DELETION; GENETICS; HUMAN; MALE; MIDDLE AGED; MITOCHONDRIAL MYOPATHY; MULTIGENE FAMILY; POINT MUTATION;

ADULT; AGED; AGING; DNA REPLICATION; DNA, MITOCHONDRIAL; FEMALE; GENE DELETION; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MULTIGENE FAMILY; POINT MUTATION;

EID: 0031087629     PISSN: 01435221     EISSN: None     Source Type: Journal    
DOI: 10.1042/cs0920225     Document Type: Article

References (93)

1. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organisation of the human mitochondrial genome. Nature (London) 1981; 290:457-70.
2. Bereiter Hahn J. Behaviour of mitochondria in the living cell. Int Rev Cytol 1990; 122:1-63.
3. Nass S, Nass MM. Intramitochondrial fibres with DNA characteristics. II: enzymatic and other hydrolytic treatments. J Cell Biol 1963; 19:613-29.
4. Fisher RP, Topper JN, Clayton DA. Promoter selection in human mitochondria involves binding of a transcription factor to orientation-independent upstream regulatory elements. Cell 1987; 50:247-58.
5. Attardi G, Chomyn A, King MP, Kruse B, Polosa PL Murdter NN. Regulation of mitochondrial gene expression in mammalian cells. Biochem Soc Trans 1989; 18: 509-13.
6. Kruse B, Narasimhan N, Attardi G. Termination of transcription in human mitochondria: identification and purification of a DNA binding protein factor that promotes termination. Cell 1989; 58:391-7.
7. Gyllensten U, Wharton D, Josefsson A. Wilson AC. Paternal inheritance of mitochondrial DNA in mice. Nature (London) 1991; 352:255-7.
8. Zouros E, Ball AO, Saavedra C, Freeman KR. Mitochondrial DNA inheritance. Nature (London) 1994; 368:817-18.
9. Richter C, Park JW, Ames BN. Normal oxidative damage to mitochondrial and nuclear DNA is extensive. Proc Nad Acad Sd USA 1980; 83:6465-7.
10. Kunkel TA, Loeb LA. Fidelity of mammalian DNA polymerases. Science (Washington DC) 1981; 213: 765-7.
11. Wallace DC. Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sei USA 1994; 91:8739-46.
12. Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Hording AE. The mitochondrial DNA transfer RNAIeu(UUR) A-G(3243) mutation. A clinical and genetic study. Brain 1995; 118:721-34.
13. Olivo PD, Van de Walle MJ, Laipis PJ, Hauswirth WW. Nucleotide sequence evidence for rapid genomic shifts in the bovine mitochondrial DNA D-loop. Nature (London) 1983; 306:400-2.
14. Jenuth JP, Peterson AC, Fu K, Shoubridge EA. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nature Genet 1996; 14:146-51.
15. Nakase H, Moraes CT, Rizzuto R, Lombes A, DiMauro S, Schon EA. Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis. Am J Hum Genet 1990; 46:418-27.
16. Poulton J, Deadman ME, Bindoff L, Morten K, Land J, Brown G. Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. Hum Mol Genet 1992; 2: 23-30.
17. Hawswith WW, Clayton DA. Length heterogeneity of a conserved displacementloop sequence in human mitochondrial DNA. Nud Acid Res 1985; 13:8093-104.
18. Marchington DR, Poulton J, Sellar A, Holt IJ. Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease? Hum Mol Genet 1996; 5:473-9.
19. Bertranpetit J, Sala J, Calafell F, Underhill PA, Moral P, Comas D. Human mitochondrial DNA variation and the origin of the Basques. Am J Hum Genet 1995;59:63-81.
20. DiRienzo A, Wilson AC. Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Nad Acad Sci USA 1991; 88: 1597-601.
21. Voos W, Moczko M, Pfanner N. Targetting, translocation and folding of mitochondrial preproteins. In: Darley-Usmar V, Schapira AHV, eds. Mitochondria: DNA, proteins and disease. London: Portland Press Ltd, 1994: 55-80.
22. Larsson NG, Carman JD, Oldfors A, Barsh GS, Clayton DA. A single mouse gene encodes the mitochondrial transcription factor A and a testis specific nuclear HMG-box protein. Nature Genet 1996; 13: 296-302.
23. Luft R, Ikkos D, Palmieri G, et al. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control; a correlated clinical, biochemcial and morphological study. J Clin Invest 1962; 41:1776-804.
24. DiMauro S, Bonilla E, Lee CP, et al. Luft's disease: further biochemical and ultrastructural studies of skeletal muscle in the second case. J Neurol Sci 1976; 27:217-32.
25. Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature (London) 1988; 331:717-19.
26. Ozawa T, Yoneda M, Tanaka M, et al. Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy. Biochem Biophys Res Commun 1988; 154: 1240-7.
27. Poulton J, Deadman ME, Ramacharan S. et at Germ-line deletions of mtDNA in mitochondrial myopathy. Am J Hum Genet 1991; 48: 649-53.
28. Tanaka M, Sato W, Ohno K, Yamamoto T, Ozawa T. Direct sequencing of deleted mitochondrial DNA in myopathie patients. Biochem Biophys Res Commun 1989; IM: 156-63.
29. Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anaemia with vacuolisation of bone marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979; 95:976-84.
30. Shoffner JM, Lett MT, Lezza AMS, Seibel P. Ballinger SW, Wallace DC. Myodonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNAlys mutation. Cell 1990; 61:931-7.
31. Pavlakis SG, Phillips PC, DiMauro S, DeVfvo DC, Rowland LP. Mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol 1984; 16:481-7.
32. Goto Y, Nonaka I, Horai S. A mutation in the tRNAIeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature (London) 1990; 1:82-3.
33. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science (Washington DC) 1988; 242: 1427-30.
34. Singh G, Lott MT, Wallace DC. A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy. N Engl J Med 1989; 320: 1300-5.
35. Zeviani M, GeHera C, Antozzi C, et al. Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNAleu(UUR). Lancet 1991; 338:143-7.
36. Holt IJ, Harding AE, Petty RKH, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990; 46: 428-33.
37. Schon EA, Koga Y, Davidson M, Moraes CT, King MP. The mitochondrial tRNAIeu(UUR) mutation in MELAS: a model for pathogenesis. Biochim Biophys Acta 1992; 1101:206-9.
38. Trounc I, Byrne E, Marzuki S. Decline in skeletal muscle mitochondrial respiratory function: possible factor in ageing. Lancet 1989; i: 637-9.
39. Yen TC, Chen KL, King SH, Yeh SH, Wei YH. Liver mitochondrial respiratory functions decline with age. Biochem Biophys Res Commun 1989; 165: 994-1003.
40. Yen TC, Su JH, King KL, Wei YH. Ageing associated 5 Kb deletion in human liver mitochondrial DNA. Biochem Biophys Res Commun 1991; 178: 124-31.
41. Hattori K, Tanaka M, Sugiyama S, et al Age-dependent increase in deleted mitochondrial DNA in the human heart: possible contributory factor to presbycardia. Am Heart J 1991; 121: 1735-42.
42. Fernandez-Silva P, Petruzzella V, Fracasso F, Gadaleta MN, Cantatore P. Reduced synthesis of mtRNA in isolated mitochondria of senescent rat brain. Biochem Biophys Res Commun I99I; 176: 645-53.
43. Fukuyama R, Hatanpaa K, Rapoport SI, Chandrasekaran K. Gene expression of ND4, a subunit of complex I of oxidative phosphorylation in mitochondria, is decreased in temporal cortex of brains of Alzheimer's disease patients. Brain Res 1996;713:290-3.
44. Hutchin T, Cortopassi G. A mitochondrial DNA clone is associated with increased risk for Alzheimer's disease. Proc Natl Acad Sei USA 1995; 92: 6892-5.
45. Wragg MA, Talbot CJ, Morris JC, Lendon CL, Goate AM. No association found between Alzheimer's disease and a mitochondrial tRNA glutamine gene variant. Neurosd Lett 1995; 201: 107-10.
46. Brown MD, Shoffner JM, Kim YL, et al Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients. Am J Hum Genet 1996; 61: 283-9.
47. Burn DJ, Mark MH, Playford ED, et al Parkinson's disease in twins studied with 18F-dopa and positron emission tomography. Neurology 1992; 42: 1894-900.
48. Schapira AHV, Cooper JM, Dexter D, Jenner P, Clark JB, Marsden CD. Mitochondrial complex I deficiency in Parkinson's disease. J Neurochem 1990; 54:823-7.
49. Shoffner JM, Watts RL, Juncons JL, Torroni A, Wallace CD. Mitochondrial oxidative phosphorylation defects in Parkinson's disease. Ann Neurol 1991; 30: 332-9.
50. Haas RH, Nasirian F, Nakano K, et al. Low platelet mitochondrial complex I and complex II/III activity in early untreated Parkinson's disease. Ann Neurol 1995; 37:714-22.
51. Ikebe S, Tanaka M, Ohno K, et al. Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence. Biochem Biophys Res Commun 1990; 170: 1044-8.
52. Shan DE, Yeh SI, Wan YC. Wei YH. Absence of 4.977 bp deletion of blood cell mitochondrial DNA in patients with young-onset Parkinson's disease. Acta Neurol Scand 1995; 91:149-52.
53. Kosel S, Lacking CB, Egensperger R, Mehraein P, Graeber MB. Mitochondrial NADH dehydrogenase and CYP2D6 genotypes in Lewy-body parkinsonism. J Neurosci Res 1996;44:174-83.
54. Corral-Debrinski M, Stepien G., Shoffner JM, et al Hypoxemia is associated with mitochondrial DNA damage and gene induction. JAMA 1991 ; 266:1812-16.
55. Alcolado JC, Alcolado R. Importance of maternal history of non-insulin dependent diabetic patients. Br Med J1991; 302: 1178-80.
56. Dorner, G., Mohknike, A. Further evidence for predominantly maternal transmission of maturity-onset type diabetes. Endokrinologie 1976; 68: 121-4.
57. Thomas F, Balkau B, Vauzelle-Kervroedan F, Papoz L, The CODIAB-INSERM-ZENECA Group. Maternal effect and familial aggregation in NIDDM. Diabetes 1994; 43:63-7.
58. Martin AO, Simpson JL, Ober C, Freinkel N. Frequency of diabetes mellitus in mothers of probands with gestational diabetes: possible matemal influence on the predisposition to gestational diabetes. Am J Obstet Gynecol 1985; 151 : 471-5.
59. Welsh N, Paabo S, Welsh M. Decreased mitochondrial gene expresion in isolated islets of rats injected neonatally with streptozotocin. Diabetologia 1991; 34: 626-31.
60. Harvey JN, Bamett D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol 1992;37:97-104.
61. Ballinger SW, Shoffner JM, Hedaya EV, et al. Maternally transmitted diabetes and deafness associated with a 10.4 Kb mitochondrial DNA deletion. Nature Genet 1992; I: 11-15.
62. Ballinger SW, Shoffner JM, Gebhart S, Koontz DA, Wallace DC. Mitochondrial diabetes revisited. Nature Genet 1994; 7:458-9.
63. Van den Ouweland JMW, Lemkes HHPJ, Ruitenbeek W, et al. Mutation in mitochondrial tRNAleu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet 1992; I: 368-71.
64. Sue CM, Holmes Walker DJ, Morris JG, Boyages SC, Crimmins DS, Byrne E. Mitochondrial gene mutations and diabetes mellitus [Letter]. Lancet 1993; 341: 437-8.
65. Alcolado JC, Majid A, Brockington M, et al. Mitochondrial gene defects in patients with NIDDM. Diabetologia 1994; 37:372-6.
66. Hattersley AT, Dronsfield MJ, Smith PR, et al. Mitochondrial mutations are an important cause of insulin-treated diabetes and deafness. Diabet Med 1994; 11 (Suppl I ):S45 [Abstract].
67. Gerbitz KD. Van den Ouweland JMW, Maasen JA, Jakcsh M. Mitochondrial diabetes mellitus: a review. Biochim Biophys Acta 1995; 1271: 253-60.
68. Kobayashi T, Oka Y, Katagiri H, et al. Association between HLA and islet-cell antibodies in diabetic patients with a mitochondrial DNA mutation at base-pair 3243. Diabetologia 1996; 39: 1196-200
69. Suzuki S, Hinokio Y, Hirai S, et al. Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNAIeu(UUR) gene: a study in seven families with mitochondrial encephalomyopathy, lactic addosis and stroke-like episodes (MELAS). Diabetologia 1994; 37: 818-25.
70. Alcolado JC, Clark PM, Rees A, Hales CN. Plasma insulin and proinsulin concentrations in mitochondrial diabetes. Lancet 1994; 344:1293-4.
71. Thomas AW, Morgan R, Sweeney MG, Rees A, Alcolado JC. The detection of mitochondrial DNA mutations using single stranded conformational polymorphism (SSCP) analysis and heteroduplex analysis. Hum Genet 1994; 94: 621-3.
72. Hirai M, Suzuki S, Onoda M, et al. Mitochondrial DNA 3394 mutation in the NADH dehydrogenase subunit I associated with non-insulin dependent diabetes mellitus. Biochem Biophys Res Commun 1996; 219:951-5.
73. Horai S, Matsunaga E. Mitochondrial DNA polymorphisms in Japanese. Hum Genet 1988; 72: 105-17.
74. Hao H, Bonilla E, Manfred! G, DiMauro S, Moraes CT. Segregation patterns of a novel mutation in the mitochondrial tRNA gtutamic add gene associated with myopathy and diabetes mellitus. Am J Hum Genet 1995; 56: 1017-25.
75. Hanna MG, Nelson I, Sweeney MG, et al. Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. Am J Hum Genet 1995; 56: 1026-33.
76. Polymeropoulos MH, Gorman-Swift R, Swift M. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nature Genet 1994; 8:95-7.
77. Bundey S, Poulton K, Whitwell H, Curtis E, Brown IAR, Fielder AR. Mitochondrial abnormalities in the DIDMOAD syndrome. J Inherited Metab Dis 1992; 15: 315-19.
78. Rotig A, Cormier V, Chatelain P, et al. Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus. optic atrophy and deafness (DIDMOAD, Wolfram Syndrome). J Inherited Metab Dis 1993; 16: 527-30.
79. Hu DN, Qui WQ, Wu BT, et al. Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. J Med Genet 1991; 28: 79-83.
80. Prezant TR, Agapian JV, Bohlman C, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet 1993; 4: 289-94.
81. Bu X, Shohat M, Jaber L, Rotter JI. A form of sensorineural deafness is determined by a mitochondrial and autosomal locus: evidence from pedigree segregation analysis. Genet Epidemiol 1993; 10: 3-15.
82. Zeviani M, Servidei S, Gellera C; Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature (London) 1989; 339: 309-11.
83. Zeviani M, Bresolin N, Gellera C, et al. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 1990; 47: 904-14.
84. Yuzaki M, Ohkoshi N, Kanazawa Y, Ohta S. Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy. Biochem Biophys Res Commun 1989; 164: 1352-7.
85. Moraes CT, Shanske S, DiMauro S, et al. Mitochondrial DNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991 ; 48: 492-501.
86. Tritshler HL, Andretta F, Moraes CT, et al Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 1991; 42: 209-17.
87. Bodnar AG, Cooper JM, Holt IJ, Leonard JV, Schapira AHV. Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. Am J Hum Genet 1993; 53:663-9.
88. Larsson NG, Oldfors A, Holme D, Clayton DA. Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion. Biochem Biophys Res Commun 1994; 200: 1374-81.
89. Poulton J, Morten K, Freeman-Emmerson C, et al. Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion. Hum Mol Genet 1994; 3: 1763-9.
90. Arnaudo E, Dalakas M, Shanske S, Moraes CT, DiMauro S, Schon EA. Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy. Lancet 1991; 337: 508-10.
91. Dalakas M, lila l, Pezexhkpour GH, Laukaitis JP, Cohen B, Griffin JL Mitochondrial myopathy caused by long term AZT (Zidovudine) therapy: management and differences from HIY-associated myopathy. N Engl J Med 1990;322:1098-105.
92. Simpson MV, Chin CD, Keilbaugh SA, Lin TS, Prusoff WH. Studies on the inhibition of mitochondrial DNA replication by 3′-azido-3′-deoxythimidine and other dideoxynucleoside analogues which inhibit HIV-1 replication. Biochem Pharmacol 1989; 38: 1033-6.
93. Petty RKH, Harding AE, Morgan-Hughes JA. The clinical features of mitochondrial myopathy. Brain 1986; 109: 915-38.