Mitochondrial encephalomyopathies

Current Opinion in Neurology

Volumn 11, Issue 5, 1998, Pages 491-496

  Shoubridge, Eric A ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

DISEASE TRANSMISSION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; ENCEPHALOMYOPATHY; GENE MAPPING; GENE MUTATION; GENE THERAPY; GENETIC LINKAGE; GENOTYPE; HUMAN; NONHUMAN; PATHOGENESIS; PHENOTYPE; REVIEW;

ANIMALS; DISEASE MODELS, ANIMAL; DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIA; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION;

EID: 0031784207     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199810000-00012     Document Type: Review

References (77)

1. Zeviani M, Fernandez-Silva P, Tiranti V. Disorders of mitochondria and related metabolism. Curr Opin Neurol 1997; 10:160-167.
2. Schon EA, Bonilla E, DiMauro S. Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr 1997; 29:131-149.
3. Vladutiu GD. Advances in the genetic mechanisms of mitochondrial disease. Curr Opin Neurol 1997; 10:512-518.
4. Lightowlers RN, Chinnery PF, Turnbull DM, Howell N. Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends Genet 1997; 13:450-455.
5. Koehler CM, Lindberg GL, Brown DR, Beitz DC, Freeman AE, Mayfield JE, et al. Replacement of bovine mitochondrial DNA by a sequence variant within one generation. Genetics 1991; 129:247-255.
6. Hauswirth WW, Laipis PJ. Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows. Proc Natl Acad Sci USA 1982; 79:4686-4690.
7. 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; 14:146-151.
8. Marchington DR, Hartshorne GM, Barlow D, Poulton J. Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck. Am J Hum Genet 1997; 60:408-416.
9. Poulton J, Macaulay V, Marchington DR. Mitochondrial genetics '98: is the bottleneck cracked? Am J Hum Genet 1998; 62:752-757. A discussion of the mtDNA bottleneck and its relevance to genetic counselling and prenatal diagnosis in patients with mtDNA disease is presented.
10. Meirelles FV, Smith LC. Mitochondrial genotype segregation in a mouse heteroplasmic lineage produced by embryonic karyoplast transplantation. Genetics 1997; 145:445-451.
11. Davis AF, Clayton DA. In situ localization of mitochondrial DNA replication in intact mammalian cells. J Cell Biol 1996; 135:883-893.
12. Howell N, Halvorson S, Kubacka I, McCullough DA, Bindoff LA, Turnbull DM. Mitochondrial gene segregation in mammals: is the bottleneck always narrow? Hum Genet 1992; 90:117-120.
13. Tulinius MH, Houshmand M, Larsson NG, Holme E, Oldfors A, Holmberg E, et al. De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring. Hum Genet 1995; 96:290-294.
14. Degoul F, Francois D, Diry M, Ponsot G, Desguerre I, Heron B, et al. A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues. J Inherit Metab Dis 1997; 20:49-53.
15. Seller A, Kennedy CR, Temple IK, Brown GK. Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA. J Inherit Metab Dis 1997; 20:102-103.
16. Santorelli FM, Tanji K, Shanske S, DiMauro S. Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. Neurology 1997; 49:270-273.
17. Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, et al. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 1997; 63:16-22.
18. Takahashi S, Makita Y, Oki J, Miyamoto A, Yanagawa J, Naito E, et al. De novo mtDNA nt 8993 (T → G) mutation resulting in Leigh syndrome [letter]. Am J Hum Genet 1998; 62:717-719.
19. Blok RB, Gook DA, Thorburn DR, Dahl HH. Skewed segregation of the mtDNA nt 8993 (T → G) mutation in human oocytes. Am J Hum Genet 1997; 60:1495-1501. A direct demonstration of rapid segregation of the ATP6 mutation in human oocytes is provided.
20. Brown GK. Bottlenecks and beyond: mitochondrial DNA segregation in health and disease. J Inherit Metab Dis 1997; 20:2-8. This paper presents a discussion of the mtDNA bottleneck and the problems it poses for the management and counselling of patients with mtDNA disease.
21. Larsson NG, Holme E, Kristiansson B, Oldfors A, Tulinius M. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res 1990; 28:131-136.
22. Weber K, Wilson JN, Taylor L, Brierley E, Johnson MA, Turnbull DM, et al. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am J Hum Genet 1997; 60:373-380.
23. Mita S, Tokunaga M, Uyama E, Kumamoto T, Uekawa K, Uchino M. Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers. Muscle Nerve 1998; 21:490-497.
24. Bidooki SK, Johnson MA, Chrzanowska-Lightowlers Z, Bindoff LA, Lightowlers RN. Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes. Am J Hum Genet 1997; 60:1430-1438.
25. Jenuth JP, Peterson AC, Shoubridge EA. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nature Genet 1997; 16:93-95. Different polymorphic mtDNA sequence variants are shown to be selected in different tissues in the same individual in this study of mitotic segregation of mtDNA in heteroplasmic mice.
26. Matthews PM, Hopkin J, Brown RM, Stephenson JB, Hilton-Jones D, Brown GK. Comparison of the relative levels of the 3243 (A → G) mtDNA mutation in heteroplasmic adult and fetal tissues. J Med Genet 1994; 31:41-44.
27. Harding AE, Holt IJ, Sweeney MG, Brockington M, Davis MB. Prenatal diagnosis of mitochondrial DNA8993 T-G disease. Am J Hum Genet 1992; 50:629-633.
28. Zhou L, Chomyn A, Attardi G, Miller CA. Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates. J Neurosci 1997; 17:7746-7753.
29. Fischel-Ghodsian N. Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics [editorial; comment]. Am J Hum Genet 1998; 62:15-19. An insightful analysis is presented of the problems of penetrance and selective tissue involvement in mtDNA diseases using examples from pedigrees with sensorineural hearing loss. The influences of environment, mtDNA haplotype and nuclear genes on phenotypic expression are discussed.
30. Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, et al. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 1997, 60:1107-1121.
31. Brown MD, Sun F, Wallace DC. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 1997; 60:381-387.
32. Tarnopolsky MA, Maguire J, Myint T, Applegarth D, Robinson BH. Clinical, physiological, and histological features in a kindred with the T3271C melas mutation. Muscle Nerve 1998; 21:25-33.
33. Chinnery PF, Howell N, Lightowlers RN, Tumbull DM. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997; 120:1713-1721.
34. Estivill X, Govea N, Barcelo E, Badenas C, Romero E, Moral L, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 1998; 62:27-35.
35. Macmillan C, Kirkham T, Fu K, Allison V, Andermann E, Chitayat D, et al. Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy. Neurology 1998; 50:417-422.
36. Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, et al. A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation. Ann Neurol 1998; 43:98-101.
37. Chinnery PF, Johnson MA, Taylor RW, Durward WF, Turnbull DM. A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia. Neurology 1997; 49:1166-1168.
38. Chinnery PF, Johnson MA, Taylor RW, Lightowlers RN, Turnbull DM. A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis. Ann Neurol 1997; 41:408-410.
39. Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, et al. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun 1997; 238:326-328.
40. Santorelli FM, Tanji K, Sano M, Shanske S, El-Shahawi M, Kranz-Eble P, et al. Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. Ann Neurol 1997; 42:256-260.
41. Santorelli FM, Siciliano G, Casali C, Basirico MG, Carrozzo R, Calvosa F, et al. Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy. Neuromusc Disord 1997; 7:156-159.
42. Bruno C, Minetti C, Tang Y, Magalhaes PJ, Santorelli FM, Shanske S, et al. Primary adrenal insufficiency in a child with a mitochondrial DNA deletion [in process citation]. J Inherit Metab Dis 1998; 21:155-161.
43. Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, et al. Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol 1998; 43:110-116.
44. Sternberg D, Danan C, Lombes A, Laforet P, Girodon E, Goossens M, et al. Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders. Hum Mol Genet 1998; 7:33-42.
45. Lombes A, Bories D, Girodon E, Frachon P, Ngo MM, Breton-Gorius J, et al. The first pathogenic mitochondrial methionine tRNA point mutation is discovered in splenic lymphoma [in process citation]. Hum Mutat 1998; Suppl[1]:S175-S183.
46. Michikawa Y, Hofhaus G, Lerman LS, Attardi G. Comprehensive, rapid and sensitive detection of sequence variants of human mitochondrial tRNA genes. Nucleic Acids Res 1997; 25:2455-2463.
47. Kogelnik AM, Lott MT, Brown MD, Navathe SB, Wallace DC. MITOMAP: a human mitochondrial genome database - 1998 update. Nucleic Acids Res 1998; 26:112-115.
48. Chomyn A. The myoclonic epilepsy and ragged-Red fiber mutation provides new insights into human mitochondrial function and genetics [In Process Citation]. Am J Hum Genet 1998; 62:745-751. An excellent discussion of the pathogenic mechanisms of tRNA mutations is presented.
49. Masucci JP, Schon EA, King MP. Point mutations in the mitochondrial tRNA(Lys) gene: implications for pathogenesis and mechanism. Mol Cell Biochem 1997; 174:215-219.
50. Degoul F, Brule H, Cepanec C, Helm M, Marsac C, Leroux J, et al. Isoleucylation properties of native human mitochondrial tRNAIIe and tRNAIIe transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIIe gene. Hum Mol Genet 1998; 7:347-354.
51. Walker UA, Schon EA. Neurotrophin-4 is up-regulated in ragged-red fibers associated with pathogenic mitochondrial DNA mutations. Ann Neurol 1998; 43:536-540.
52. leu(UUR) in a cell culture system. The relevance of this observations to patients is not yet clear.
53. Holt IJ, Dunbar DR, Jacobs HT. Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: segregation, maintenance and recombination dependent upon nuclear background. Hum Mol Genet 1997; 6:1251-1260.
54. Manfredi G, Vu T, Bonilla E, Schon EA, DiMauro S, Arnaudo E, et al. Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic? Ann Neurol 1997; 42:180-188.
55. 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 1993; 2:23-30.
56. Carrozzo R, Hirano M, Fromenty B, Casali C, Santorelli FM, Bonilla E, et al. Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses. Neurology 1998; 50:99-106.
57. Suomalainen A, Majander A, Wallin M, Setala K, Kontula K, Leinonen H, et al. Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology 1997; 48:1244-1253.
58. Taanman JW, Bodnar AG, Cooper JM, Morris AA, Clayton PT, Leonard JV, et al. Molecular mechanisms in mitochondrial DNA depletion syndrome. Hum Mol Genet 1997; 6:935-942. This study documents loss of mtDNA in clonal cultures of human myoblasts from a patient with mtDNA depletion syndrome. This phenotype may permit identification of the gene defect by expresion cloning methods.
59. 0 cells.
60. Morris AA, Taanman JW, Blake J, Cooper JM, Lake BD, Malone M, et al. Liver failure associated with mitochondrial DNA depletion [in process citation]. J Hepatol 1998; 28:556-563.
61. Spelbrink JN, Van Galen MJ, Zwart R, Bakker HD, Rovio A, Jacobs HT, et al. Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes. Hum Genet 1998; 102:327-331.
62. Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequignot E, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nature Genet 1995; 11:144-149.
63. Merante F, Petrova-Benedict R, MacKay N, Mitchell G, Lambert M, Morin C, et al. A biochemically distinct form of cylochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. Am J Hum Genet 1993; 53:481-487.
64. ••] a demonstration is presented which indicates that most Leigh syndrome patients with classical COX deficiency belong to the same genetic complementation group.
65. Brown RM, Brown GK. Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome. J Inherit Metab Dis 1996; 19:752-760. A demonstration that most Leigh's syndrome patients with classical COX deficiency belong to the same genetic complementation group and therefore likely have a defect in the same gene.
66. Adams PL, Lightowlers RN, Turnbull DM. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Ann Neurol 1997; 41:268-270.
67. Lee N, Morin C, Mitchell G, Robinson BH. Saguenay Lac Saint Jean cylochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc. Biochim Biophys Acta 1998; 1406:1-4.
68. Davis RE, Miller S, Herrnstadt C, Ghosh SS, Fahy E, Shinobu LA, et al. Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease. Proc Natl Acad Sci USA 1997; 94:4526-4531.
69. Hirano M, Shtilbans A, Mayeux R, Davidson MM, DiMauro S, Knowles JA, et al. Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. Proc Natl Acad Sci USA 1997; 94:14894-14899.
70. Wallace DC, Stugard C, Murdock D, Schurr T, Brown MD. Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations. Proc Natl Acad Sci USA 1997; 94:14900-14905.
71. Parker WD Jr, Swerdlow RH. Mitochondrial dysfunction in idiopathic parkinson disease. Am J Hum Genet 1998; 62:758-762.
72. Graham BH, Waymire KG, Cottrell B, Trounce IA, MacGregor GR, Wallace DC. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the neartimuscle isoform of the adenine nucleotide translocator. Nature Genet 1997; 16:226-234. This mouse model shows many of the features found in patients with mitochondrial encephalomyopathies.
73. Melov S, Schneider JA, Day BJ, Hinerfeld D, Coskun P, Mirra SS, et al. A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase. Nature Genet 1998; 18:159-163.
74. Taylor RW, Chinnery PF, Clark KM, Lightowlers RN, Turnbull DM. Treatment of mitochondrial disease. J Bioenerg Biomembr 1997; 29:195-205.
75. Clark KM, Bindoff LA, Lightowlers RN, Andrews RM, Griffiths PG, Johnson MA, et al. Reversal of a mitochondrial DNA defect in human skeletal muscle [letter]. Nature Genet 1997; 16:222-224. This study demonstrates that the pathogenic mtDNA genotype can be reversed in the muscle of patients whose satellite cells contain undetectable levels of mutant mtDNAs.
76. •], this study shows that the mtDNA genotype can be completely reversed in the muscle of specific patients with mtDNA mutations.
77. Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nature Genet 1997; 15:212-215.