Deletions of mitochondrial DNA in Kearns-Sayre syndrome

Neurology

Volumn 51, Issue 6, 1998, Pages 1339-1346

  Zeviani, M ^a   Moraes, C T ^a   Dimauro, S ^a   Nakase, H ^a   Bonilla, E ^a   Schon, E A ^a   Rowland, L P ^a  

^a Neurological Institute of the Columbia Presbyterian Medical Center ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 33744869653     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of mitochondria! DNA in patients with mitochondrial myopathies. Nature 1988;331:717-719.
2. DiMauro S, Zeviani M, Servidei S, et al. Biochemical and molecular aspects of cytochrome c oxidase deficiency. In: DiDonato S, DiMauro S, Mamoli A, Rowland LP, eds. Advances in neurology, vol 48. New York: Raven Press, 1988:93-106.
3. Zeviani M, Nakagawa M, Herbert J, et al. Isolation of a cDNA done encoding subunit IV of human cytochrome c oxidase. Gene 1987:55:205-217.
4. DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987;22:498-506.
5. Davis LG, Dibner MD, Battey JF, eds. Basic methods in molecular biology. New York: Elsevier, 1986:47-50.
6. Bookehnan H, Trijbels JMG, Sengers RCA, Janssen AJM. Measurement of cytochromes in human skeletal muscle mitochondria isolated from fresh and frozen stored muscle specimens. Biochem Med 1978;19:366-373.
7. Palva TK, Palva ET. Rapid isolation of animal mitochondria! DNA by alkaline extraction. FEBS Lett 1985; 192:267-270.
8. Feinberg AP, Vogelstein B. A technique for radiolabelirg DNA restriction endonuclease fragments to high specific activity. Anal Biochem 1983;132:6-13.
9. Kristensen T, Prydz H. The presence of intact mitochondria! DNA in HeLa cell nuclei Nucleic Acids Res 1986;14:2597-2609.
10. Berk AJ, Clayton DA. Mechanism of mitochondria! DNA replication in mouse L-cells: Asynchronous replication of strands, segregation of circular daughter molecules, aspects of topology and turnover of an initiation sequence. J Mol Biol 1974;86:801-824.
11. Anderson S, Bankier AT, Barrel! BG, et al. Sequence and organization of the human mitochondria! genome. Nature 1981;290:457-465.
12. Cann RL, Stoneking M, Wilson AC. Mitochondria! DNA and human evolution. Nature 1987:325:31-38.
13. Wrischnik LA, Higuchi RG, Stoneking M, et al. Length mutations in human mitochondria! DNA: direct sequencing of enzymatically amplified DNA. Nucleic Acids Res 1987;15:529-541.
14. Lestienne P, Ponsot G. Kearns-Sayre syndrome with muscle mitochondria! DNA deletion. Lancet 1988;1:885.
15. Pavlakis SG, Rowland LP, DeVivo DC, et al. Mitochondria! myopathies and encephalomyppathies. In: Plum F, ed. Contemporary neurology. Philadelphia: FA Davis, (in press).
16. Wallace DC. Maternal genes: mitochondria! diseases. In: Birth defects, vol 23, no. 3. New York: Alan R. Liss, 1987:137-190.
17. Nass MMK. Mitochondria! DNA: advances, problems, and goals. Science 1969;165:25-35.
18. Bogenhagen D, Clayton DA. The number of mitochondria! deoxyribonucleic acid genomes in mouse L and human HeLa cells. J Biol Chem 1974;249:7991-7995.
19. Nicholls DG. Bioenergetics: an introduction to the chemiosmotic theory. New York: Academic Press, 1982.
20. Schatz G. How mitochondria import proteins from the cytoplasm. FEBS Lett 1979;103:203-211.
21. Schatz G, Butow RA. How are proteins imported into mitochondria? Cell 1983;32:316-318.
22. Hay R, Bohni P, Gasser S. How mitochondria import proteins. Biochim Biophys Acte 1984;779:65-87.
23. Clayton DA. Transcription of the mammalian mitochondrial genome. Annu Rev Biochem 1984;53:573-594.
24. Murphy WI, Attardi B, Tu C, Attardi G. Evidence for complete symmetrical transcription in vivo of mitochondria! DNA in HeLa cellf J Mol Biol 1975;99:809-814.
25. Tzagoloff A, Myers AM. Genetics of mitochondria! biogenesis. Annu Rev Biochem 1986;55:249-285.
26. Montoya J, Ojala D, Attardi G. Distinctive features of the 5'terminal sequences of the human mitochondria! mRNAs. Nature 1981;290:466-470.
27. Qjala D, Montoya J, Attardi G. tRNA punctuation model of RNA processing in human mitochondria. Nature 1981;290:470-474.
28. Johnson MJ, Wallace DC, Ferris SD, Rattazzi MC, Cavalli-Sforza LL. Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol E vol 1983;19:266-271.
29. Bonne-Tamir B, Johnson MJ, Natali A, et al. Human mitochondria! DNA types in two Israeli populations-a comparative study at the DNA level. Am J Hum Genet 1986;38:341-351.
30. Rowland LP, Hausmanowa-Petrusewicz I, Bardurska B, et al. Kearns-Sayre syndrome in twins: lethal dominant mutation or acquired disease? Neurology 1988 8:1399-1402.
31. King MP, Attardi G. Injection of mitochondria into human cells leads to a rapid replacement of the endogenous mitochondria! DNA. Cell 1988;52:811-619.
32. Geissler E, Theile M. Virus-induced gene mutation of eukaryotic cells. Hum Genet 1983 3:1-12.
33. Chomyn A, Mariottini P, Cleeter MWJ, et al. Six unidentified reading frames of human mitochondria! DNA encode components of the respiratory-chain NADH dehydrogenase. Nature 1985;314:592-597.
34. Chomyn A, Mariottini P, Gonzalez-Cadavid N, et aL Identification of the polypeptides encoded in the ATPase 6 gene and in the unassigned reading frames 1 and 3 of human mtDNA. Proc Natl Acad Sci USA 1983;80:5o35-5539.