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. 1988 Aug;51(8):1075–1077. doi: 10.1136/jnnp.51.8.1075

Restriction endonuclease analysis of leukocyte mitochondrial DNA in Leber's optic atrophy.

I J Holt 1, D H Miller 1, A E Harding 1
PMCID: PMC1033117  PMID: 2905730

Abstract

In order to test the hypothesis that Leber's optic atrophy may be caused by mutation of the mitochondrial (mt) genome, restriction fragment length polymorphism in leukocyte mt DNA was studied in 16 patients with Leber's optic atrophy, 28 of their unaffected matrilineal relatives, and 35 normal control subjects. No differences in restriction fragment patterns were observed between affected and unaffected individuals in the same maternal line, and there was no evidence of major deletion of mt DNA in patients. This study provides no positive evidence of mitochondrial inheritance in Leber's optic atrophy but does not exclude it.

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Selected References

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  1. Bonné-Tamir B., Johnson M. J., Natali A., Wallace D. C., Cavalli-Sforza L. L. Human mitochondrial DNA types in two Israeli populations--a comparative study at the DNA level. Am J Hum Genet. 1986 Mar;38(3):341–351. [PMC free article] [PubMed] [Google Scholar]
  2. Brown W. M. Polymorphism in mitochondrial DNA of humans as revealed by restriction endonuclease analysis. Proc Natl Acad Sci U S A. 1980 Jun;77(6):3605–3609. doi: 10.1073/pnas.77.6.3605. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Cann R. L., Stoneking M., Wilson A. C. Mitochondrial DNA and human evolution. Nature. 1987 Jan 1;325(6099):31–36. doi: 10.1038/325031a0. [DOI] [PubMed] [Google Scholar]
  4. Carroll W. M., Mastaglia F. L. Leber's optic neuropathy: a clinical and visual evoked potential study of affected and asymptomatic members of a six generation family. Brain. 1979 Sep;102(3):559–580. doi: 10.1093/brain/102.3.559. [DOI] [PubMed] [Google Scholar]
  5. Chomyn A., Mariottini P., Cleeter M. W., Ragan C. I., Matsuno-Yagi A., Hatefi Y., Doolittle R. F., Attardi G. Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase. Nature. 1985 Apr 18;314(6012):592–597. doi: 10.1038/314592a0. [DOI] [PubMed] [Google Scholar]
  6. DiMauro S., Bonilla E., Zeviani M., Nakagawa M., DeVivo D. C. Mitochondrial myopathies. Ann Neurol. 1985 Jun;17(6):521–538. doi: 10.1002/ana.410170602. [DOI] [PubMed] [Google Scholar]
  7. Egger J., Wilson J. Mitochondrial inheritance in a mitochondrially mediated disease. N Engl J Med. 1983 Jul 21;309(3):142–146. doi: 10.1056/NEJM198307213090304. [DOI] [PubMed] [Google Scholar]
  8. Erickson R. P. Leber's optic atrophy, a possible example of maternal inheritance. Am J Hum Genet. 1972 May;24(3):348–349. [PMC free article] [PubMed] [Google Scholar]
  9. Giles R. E., Blanc H., Cann H. M., Wallace D. C. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6715–6719. doi: 10.1073/pnas.77.11.6715. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Hatefi Y. The mitochondrial electron transport and oxidative phosphorylation system. Annu Rev Biochem. 1985;54:1015–1069. doi: 10.1146/annurev.bi.54.070185.005055. [DOI] [PubMed] [Google Scholar]
  11. Holt I. J., Harding A. E., Morgan-Hughes J. A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 1988 Feb 25;331(6158):717–719. doi: 10.1038/331717a0. [DOI] [PubMed] [Google Scholar]
  12. Horai S., Gojobori T., Matsunaga E. Mitochondrial DNA polymorphism in Japanese. I. Analysis with restriction enzymes of six base pair recognition. Hum Genet. 1984;68(4):324–332. doi: 10.1007/BF00292594. [DOI] [PubMed] [Google Scholar]
  13. Horai S., Matsunaga E. Mitochondrial DNA polymorphism in Japanese. II. Analysis with restriction enzymes of four or five base pair recognition. Hum Genet. 1986 Feb;72(2):105–117. doi: 10.1007/BF00283927. [DOI] [PubMed] [Google Scholar]
  14. Johnson M. J., Wallace D. C., Ferris S. D., Rattazzi M. C., Cavalli-Sforza L. L. Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol. 1983;19(3-4):255–271. doi: 10.1007/BF02099973. [DOI] [PubMed] [Google Scholar]
  15. Morgan-Hughes J. A., Hayes D. J., Cooper M., Clark J. B. Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain. Biochem Soc Trans. 1985 Aug;13(4):648–650. doi: 10.1042/bst0130648. [DOI] [PubMed] [Google Scholar]
  16. Nikoskelainen E., Hoyt W. F., Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members. Arch Ophthalmol. 1982 Oct;100(10):1597–1602. doi: 10.1001/archopht.1982.01030040575003. [DOI] [PubMed] [Google Scholar]
  17. Nikoskelainen E., Hoyt W. F., Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members. Arch Ophthalmol. 1983 Jul;101(7):1059–1068. doi: 10.1001/archopht.1983.01040020061011. [DOI] [PubMed] [Google Scholar]
  18. Nikoskelainen E. New aspects of the genetic, etiologic, and clinical puzzle of Leber's disease. Neurology. 1984 Nov;34(11):1482–1484. doi: 10.1212/wnl.34.11.1482. [DOI] [PubMed] [Google Scholar]
  19. Novotny E. J., Jr, Singh G., Wallace D. C., Dorfman L. J., Louis A., Sogg R. L., Steinman L. Leber's disease and dystonia: a mitochondrial disease. Neurology. 1986 Aug;36(8):1053–1060. doi: 10.1212/wnl.36.8.1053. [DOI] [PubMed] [Google Scholar]
  20. Petty R. K., Harding A. E., Morgan-Hughes J. A. The clinical features of mitochondrial myopathy. Brain. 1986 Oct;109(Pt 5):915–938. doi: 10.1093/brain/109.5.915. [DOI] [PubMed] [Google Scholar]
  21. Poole C. J., Kind P. R. Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy. Br Med J (Clin Res Ed) 1986 May 10;292(6530):1229–1230. doi: 10.1136/bmj.292.6530.1229. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Rigby P. W., Dieckmann M., Rhodes C., Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. doi: 10.1016/0022-2836(77)90052-3. [DOI] [PubMed] [Google Scholar]
  23. Roger J. Genetic transmission of myoclonus epilepsy with ragged red fibers. Ann Neurol. 1986 Oct;20(4):545–546. doi: 10.1002/ana.410200423. [DOI] [PubMed] [Google Scholar]
  24. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  25. Wallace D. C. Leber's optic atrophy: a possible example of vertical transmission of a slow virus in man. Australas Ann Med. 1970 Aug;19(3):259–262. doi: 10.1111/imj.1970.19.3.259. [DOI] [PubMed] [Google Scholar]
  26. Wilson J. Leber's hereditary optic atrophy: a possible defect of cyanide metabolism. Clin Sci. 1965 Dec;29(3):505–515. [PubMed] [Google Scholar]
  27. Yatscoff R. W., Goldstein S., Freeman K. B. Conservation of genes coding for proteins synthesized in human mitochondria. Somatic Cell Genet. 1978 Nov;4(6):633–645. doi: 10.1007/BF01543155. [DOI] [PubMed] [Google Scholar]

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