Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
letter
. 1995 Oct;57(4):954–957.

Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.

R J Oostra, C Van den Bogert, L G Nijtmans, M J van Galen, R Zwart, P A Bolhuis, E M Bleeker-Wagemakers
PMCID: PMC1801504  PMID: 7573056

Full text

PDF
954

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Brown M. D., Torroni A., Huoponen K., Chen Y. S., Lott M. T., Wallace D. C. Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy. Am J Hum Genet. 1994 Aug;55(2):410–412. [PMC free article] [PubMed] [Google Scholar]
  2. Degli Esposti M., Carelli V., Ghelli A., Ratta M., Crimi M., Sangiorgi S., Montagna P., Lenaz G., Lugaresi E., Cortelli P. Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy. FEBS Lett. 1994 Oct 3;352(3):375–379. doi: 10.1016/0014-5793(94)00971-6. [DOI] [PubMed] [Google Scholar]
  3. Howell N., Bindoff L. A., McCullough D. A., Kubacka I., Poulton J., Mackey D., Taylor L., Turnbull D. M. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet. 1991 Nov;49(5):939–950. [PMC free article] [PubMed] [Google Scholar]
  4. Howell N. Mitochondrial gene mutations and human diseases: a prolegomenon. Am J Hum Genet. 1994 Aug;55(2):219–224. [PMC free article] [PubMed] [Google Scholar]
  5. Huoponen K., Vilkki J., Aula P., Nikoskelainen E. K., Savontaus M. L. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet. 1991 Jun;48(6):1147–1153. [PMC free article] [PubMed] [Google Scholar]
  6. Johns D. R., Neufeld M. J., Hedges T. R., 3rd Mitochondrial DNA mutations in Cuban optic and peripheral neuropathy. J Neuroophthalmol. 1994 Sep;14(3):135–140. [PubMed] [Google Scholar]
  7. Johns D. R., Neufeld M. J., Park R. D. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun. 1992 Sep 30;187(3):1551–1557. doi: 10.1016/0006-291x(92)90479-5. [DOI] [PubMed] [Google Scholar]
  8. Jun A. S., Brown M. D., Wallace D. C. 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 U S A. 1994 Jun 21;91(13):6206–6210. doi: 10.1073/pnas.91.13.6206. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Larsson N. G., Andersen O., Holme E., Oldfors A., Wahlström J. Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol. 1991 Nov;30(5):701–708. doi: 10.1002/ana.410300511. [DOI] [PubMed] [Google Scholar]
  10. Mackey D., Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet. 1992 Dec;51(6):1218–1228. [PMC free article] [PubMed] [Google Scholar]
  11. Majander A., Huoponen K., Savontaus M. L., Nikoskelainen E., Wikström M. Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS Lett. 1991 Nov 4;292(1-2):289–292. doi: 10.1016/0014-5793(91)80886-8. [DOI] [PubMed] [Google Scholar]
  12. Nijtmans L. G., Barth P. G., Lincke C. R., Van Galen M. J., Zwart R., Klement P., Bolhuis P. A., Ruitenbeek W., Wanders R. J., Van den Bogert C. Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy. Biochim Biophys Acta. 1995 Apr 24;1270(2-3):193–201. doi: 10.1016/0925-4439(95)00044-5. [DOI] [PubMed] [Google Scholar]
  13. Oostra R. J., Bolhuis P. A., Wijburg F. A., Zorn-Ende G., Bleeker-Wagemakers E. M. Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet. 1994 Apr;31(4):280–286. doi: 10.1136/jmg.31.4.280. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Oostra R. J., Bolhuis P. A., Zorn-Ende I., de Kok-Nazaruk M. M., Bleeker-Wagemakers E. M. Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation. Hum Genet. 1994 Sep;94(3):265–270. doi: 10.1007/BF00208281. [DOI] [PubMed] [Google Scholar]
  16. Spelbrink J. N., Van Oost B. A., Van den Bogert C. The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion. Hum Mol Genet. 1994 Nov;3(11):1989–1997. doi: 10.1093/hmg/3.11.1989. [DOI] [PubMed] [Google Scholar]
  17. Van Kuilenburg A. B., Dekker H. L., Van den Bogert C., Nieboer P., Van Gelder B. F., Muijsers A. O. Isoforms of human cytochrome-c oxidase. Subunit composition and steady-state kinetic properties. Eur J Biochem. 1991 Aug 1;199(3):615–622. doi: 10.1111/j.1432-1033.1991.tb16162.x. [DOI] [PubMed] [Google Scholar]
  18. Van den Bogert C., Pennings A., Dekker H. L., Luciaková K., Boezeman J. B., Sinjorgo K. M. Quantification of mitochondrial proteins in cultured cells by immuno-flow cytometry. Biochim Biophys Acta. 1991 Sep 23;1097(2):87–94. doi: 10.1016/0925-4439(91)90090-v. [DOI] [PubMed] [Google Scholar]
  19. Wallace D. C., Singh G., Lott M. T., Hodge J. A., Schurr T. G., Lezza A. M., Elsas L. J., 2nd, Nikoskelainen E. K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988 Dec 9;242(4884):1427–1430. doi: 10.1126/science.3201231. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES