Mitochondrial genetics and human disease

BioEssays

Volumn 18, Issue 12, 1996, Pages 983-991

  Grossman, Lawrence I ^a   Shoubridge, Eric A ^b  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0030465635     PISSN: 02659247     EISSN: None     Source Type: Journal    
DOI: 10.1002/bies.950181208     Document Type: Review

References (78)

1. Anderson, S. et al. (1981). Sequence and organization of the human mitochondrial genome. Nature 290, 457-465.
2. Clayton, D. A. (1992). Structure and function of the mitochondrial genome. J. Inher. Metab. Dis. 15, 439-447.
3. Clayton, D. A. (1992). Transcription and replication of animal mitochondrial DNAs. Int. Rev. Cyt. 141, 217-232.
4. Virbasius, J. V. and Scarpulla, R. C. (1991). Transcriptional activation through ets domain binding sites in the cytochrome c oxidase subunit IV gene. Mol. Cell. Biol. 11, 5631-5638.
5. Chau, C. M. A., Evans, M. J. and Scarpulla, R. C. (1992). Nuclear respiratory factor-1 activation sites in genes encoding the γ-subunit of ATP synthase, eukaryotic initiation factor-2α, and tyrosine aminotransferase - specific interaction of purified NRF-1 with multiple target genes. J. Biol. Chem. 267, 6999-7006.
6. Virbasius, J. V. and Scarpulla, R. C. (1994). Activation of the human mitochondrial transcription factor A gene by nuclear respiratory factors - a potential regulatory link between nuclear and mitochondrial gene expression in organelle biogenesis. Proc. Natl Acad. Sci. USA 91, 1309-1313.
7. Glles, R. E., Blanc, H., Cann, H. M. and Wallace, D. C. (1980). Maternal inheritance of human mitochondrial DNA. Proc. Natl Acad. Sci. USA 77, 6715-6719.
8. Ashley, M. V., Laipis, P. J. and Hauswirth, W. W. (1989). Rapid segregation of heteroplasmic bovine mitochondria. Nucl. Acids Res. 17, 7325-7331.
9. Bolhuis, P. A. et al. (1990). Rapid shift in genotype of human mitochondrial DNA in a family with Leber hereditary optic neuropathy. Biochem. Biophys. Res. Comm. 170, 994-997.
10. Koehler, C. M. et al. (1991). Replacement of bovine mitochondrial DNA by a sequence variant within one generation. Genetics 129, 247-255.
11. Jenuth, J. P., Peterson, A. C., Fu, K. and Shoubridge, E. A. (1996). Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nature Genetics (in press).
12. Bourgeron, T. et al. (1995). Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nature Genetics 11, 144-149.
13. Holt, I. J., Harding, A. E. and Morgan-Hughes, J. A. (1988). Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331, 717-719.
14. Wallace, D. C. et al. (1988). Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242, 1427-1430.
15. Holt, I. J. et al. (1989). Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann. Neur. 26, 699-708.
16. Moraes, C. T. et al. (1989). Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. New Eng. J. Med. 320, 1293-1299.
17. Rotig, A. et al. (1990). Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J. Clin. Invest. 86, 1601-1608.
18. McShane, M. A. et al. (1991). Pearson Syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am. J. Hum. Genet. 48, 39-42.
19. Schon, E. A. et al. (1989). A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 244, 346-349.
20. Shoffner, J. M. et al. (1989). Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy. Proc. Natl Acad. Sci. USA 86, 7952-7956.
21. Mita, S. et al. (1990). Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucl. Acids Res. 18, 561-567.
22. Hayashi, J. I., Ohta, S., Kikuchi, A., Takemitsu, M., Goto, Y. and Nonaka, I. (1991). Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc. Natl Acad. Sci. USA 88, 10614-10618.
23. Shanske, S. et al. (1990). Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre Syndrome. Neurology 40, 24-28.
24. Zeviani, M. et al. (1990). Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies. Ann. Neurol. 28, 94-97.
25. Brockington, M., Sweeney, M. G., Hammans, S. R., Morgan-Hughes, J. A. and Harding, A. E. (1993). A Tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies. Nature Genetics 4, 67-71.
26. Poulton, J., Deadman, M. E., Bindoff, L., Morten, K., Land, J. and Brown, G. (1993). Families of mtDNA rearrangements can be detected in patients with mtDNA deletions - duplications may be a transient intermediate form. Hum. Molec. Genet. 2, 23-30.
27. Rotig, A., Bourgeron, T., Chretien, D., Rustin, P. and Munnich, A. (1995). Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum. Mol. Genet. 4, 1327-1330.
28. Ballinger, S. W. and Wallace, D. C. (1995). Maternally transmitted diabetes and deafness. Endocrinologist 5, 104-112.
29. Schon, E. A., Hirano, M. and Dimauro, S. (1994). Mitochondrial encephalomyopathies: Clinical and molecular analysis. J. Bioenerg. Biomemb. 26, 291-299.
30. Wallace, D. C. (1994). Mitochondrial DNA mutations in diseases of energy metabolism. J. Bioenerg. Biomemb. 26, 241-250.
31. Goto, Y., Nonaka, I. and Horal, S. (1990). A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup in mitochondrial encephalomyopathies. Nature 348, 651-653.
32. Shoffner, J. M., Lott, M. T., Lezza, A. M. S., Seibel, P., Ballinger, S. W. and Wallace, D. C. (1990). Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA transfer RNA-lys mutation. Cell 61, 931-937.
33. Brown, M. D. and Wallace, D. C. (1994). Molecular basis of mitochondrial DNA disease. J. Bioenerg. Biomemb. 26, 273-289.
34. Larsson, N. G. and Clayton, D. A. (1995). Molecular genetic aspects of human mitochondrial disorders. Annu. Rev. Genet. 29, 151-178.
35. Boulet, L., Karpati, G. and Shoubridge, E. A. (1992). Distribution and threshold expression of the trans-RNA(lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red libers (MERRF). Am. J. Hum. Genet. 51, 1187-1200.
36. King, M. P., Koga, Y., Davidson, M. and Schon, E. A. (1992). Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the transfer RNA(leu)(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol. Cell. Biol. 12, 480-490.
37. Suomalainen, A., Majander, A., Pihko, H., Peltonen, L. and Syvanen, A. C. (1993). Quantification of transfer RNA(3243)(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription. Hum. Molec. Genet. 2, 525-534.
38. Yoneda, M., Miyatake, T. and Attardi, G. (1994). Complementation of mutant and wild-type human mitochondrial DMAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles. Mol. Cell. Biol. 14, 2699-2712.
39. Prezant, T. R. et al. (1993). Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genetics 4, 289-294.
40. Brown, M. D., Voljavec, A. S., Lott, M. T., Torroni, A., Yang, C. C. and Wallace, D. C. (1992). Mitochondrial DNA Complex-I and Complex-III mutations associated with Leber's hereditary optic neuropathy. Genetics 130, 163-173.
41. Harding, A. E., Sweeney, M. G., Govan, G. G. and P., R.-E. (1995). Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am. J. Hum. Genet. 57, 77-86.
42. Howell, N., Kubacka, I., Halvorson, S., Howell, B., McCullough, D. A. and Mackey, D. (1995). Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics 140, 285-302.
43. Jun, A. S., Brown, M. D. and Wallace, D. C. (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. USA 91, 6206-6210.
44. Devries, D. D. et al. (1996). Genetic and biochemical impairment of mitochondrial Complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am. J. Hum. Genet. 58, 703-711.
45. Howell, N., Kubacka, I., Xu, M. and McCullough, D. A. (1991). Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am. J. Hum. Genet. 48, 935-942.
46. Larsson, N. G., Andersen, O., Holme, E., Oldfors, A. and Wahlstrom, J. (1991). Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann. Neurol. 30, 701-708.
47. Oostra, R. J., Vangalen, M. J. M., Bolhuis, P. A., Bleekerwagemakers, E. M. and Van den Bogert, C. (1995). The mitochondrial DNA mutation ND6*14,484C associated with Leber hereditary optic neuropathy, leads to deficiency of Complex I of the respiratory chain. Biochem. Biophys. Res. Commun. 215, 1001-1005.
48. Holt, I., Harding, A., Petty, R. and Morgan-Hughes, J. (1990). A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am. J. Human Genet. 46, 428-433.
49. Tatuch, Y. et al. (1992). Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am. J. Hum. Genet. 50, 852-858.
50. Tatuch, Y. and Robinson, B. H. (1993). The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. Biochem. Biophys. Res. Comm. 192, 124-128.
51. Keightley, J. A. et al. (1996). A microdeletion in cytochrome coxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nature Genet. 12, 410-416.
52. Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, S. and DiDonato, S. (1989). An autosomal dominant disorder with multiple deletions of mitochondrial DN A starting at the D-loop region. Nature 339, 309-311.
53. Suomalainen, A. et al. (1995). An autosomal locus predisposing to deletions of mitochondrial DNA. Nature Genet. 9, 146-151.
54. Kaukonen, J. A. et al. (1996). An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am. J. Hum. Genet. 58, 763-769.
55. Ricci, E., Moraes, C. T., Servidei, S., Tonali, P., Bonilla, E. and DlMauro, S. (1992). Disorders associated with depletion of mitochondrial DNA. Brain Path. 2, 141-147.
56. Tritschler, H. J. et al. (1992). Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 42, 209-217.
57. Larsson, N. G., Holme, E., Kristiansson, B., Oldfors, A. and Tulinius, M. (1990). Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr. Res. 28, 131-136.
58. Petruzzella, V., Moraes, C. T., Sano, M. C., Bonilla, E., Dimauro, S. and Schon, E. A. (1994). Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum. Mol. Genet. 3, 449-454.
59. Genge, A., Karpati, G., Arnold, D., Shoubridge, E. A. and Carpenter, S. (1995). Familial myopathy with conspicuous depletion of mitochondria in muscle fibers: A morphologically distinct disease. Neuromusc. Disord. 5, 139-144.
60. Clafaloni, E. et al. (1992). MELAS - clinical features, biochemistry, and molecular genetics. Ann. Neurol. 31, 391-398.
61. Bindoff, L. A. et al. (1993). Abnormal RNA processing associated with a novel transfer RNA mutation in mitochondrial DNA - a potential disease mechanism. J. Biol. Chem. 269, 19559-19564.
62. Kadenbach, B., Kuhn-Nentwig, L. and Buge, U. (1987). Evolution of a regulatory enzyme: cytochrome c oxidase (complex IV). Curr. Top. Bioenerg. 15, 114-162.
63. Anthony, G., Reimann, A. and Kadenbach, B. (1993). Tissue-specific regulation of bovine heart cytochrome c oxidase activity by ADP via interaction with subunit Vla. Proc. Natl Acad. Sci. USA 90, 1652-1656.
64. Rohdich, F. and Kadenbach, B. (1993). Tissue-specific regulation of cytochrome coxidase efficiency by nucleotides. Biochemistry 32, 8499-8503.
65. Loveland, B., Wang, C. R., Yonekawa, H., Hermel, E. and Lindahl, K. F. (1990). Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein. Cell 60, 971-980.
66. Harding, A. E. et al. (1992). Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 115, 979-989.
67. Smith, P. R. et al. (1995). Antibodies to human optic nerve in Leber's hereditary optic neuropathy. J. Neurol. Sci. 130, 134-138.
68. Govan, G. G., Smith, P. R., Kellarwood, H., Schapira, A. H. V. and Harding, A. E. (1994). HLA class II genotypes in Leber's hereditary optic neuropathy. J. Neurol. Sci 126, 193-196.
69. Chalmers, R. M., Govan, G. G., Schapira, A. H. V. and Harding, A. E. (1996). HLA class I genotypes in Leber's hereditary optic neuropathy. J. Neurol. Sci. 135, 173-175.
70. Cortopassi, G. A., Shlbata, D., Soong, N. W. and Arnheim, N. (1992). A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues. Proc. Natl Acad. Sci. USA 89, 7370-7374.
71. Simonetti, S., Chen, X., DiMauro, S. and Schon, E. A. (1992). Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR. Biochim. Biophys. Acta 1180, 113-122.
72. Soong, N. W., Hinton, D. R., Cortopassi, G. and Arnheim, N. (1992). Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain. Nature Genet. 2, 318-323.
73. Melov, S., Shoffner, J. M., Kaufman, A. and Wallace, D. C. (1995). Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle. Nucleic Acids Res. 23, 4122-4126.
74. Reynier, P. and Malthlery, Y. (1995). Accumulation of deletions in mtDNA during tissue aging: Analysis by long PCR. Biochem. Biophys. Res. Commun. 217, 59-67.
75. Eimon, P. M., Chung, S. S., Lee, C. M., Weindruch, R. and Aiken, J. M. (1996). Age-associated mitochondrial DNA deletions in mouse skeletal muscle: comparison of different regions of the mitochondrial genome. Dev. Genet. 18, 107-113.
76. Servidel, S. et al. (1991). Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA - clinical, morphologic, and biochemical studies. Neurology 41, 1053-1059.
77. Johnson, M. A., Bindoff, L. A. and Turnbull, D. M. (1993). Cytochrome c oxidase activity in single muscle fibers - assay techniques and diagnostic applications. Ann. Neurol. 33, 28-35.
78. Hess, J. F., Parisi, M. A., Bennett, J. L. and Clayton, D. A. (1991). Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 351, 236-239.