Advanced search
Publication Cover
Neuro-Ophthalmology Volume 22, 1999 - Issue 3
Submit an article Journal homepage
10
Views
10
CrossRef citations to date
0
Altmetric
Research Article

Multicenter study on the frequency of three primary mutations of mitochondrial DNA in Japanese pedigrees with Leber’s hereditary optic neuropathy: comparison with American and British counterparts

Keiko Yamada Department of Ophthalmology, Keio University School of Medicine, Tokyo,
,
Yoshihisa Oguchi Department of Ophthalmology, Keio University School of Medicine, Tokyo,
,
Yoshihiro Hotta Department of Ophthalmology, Juntendo University School of Medicine, Tokyo,
,
Makoto Nakamura Department of Ophthalmology, Kobe University School of Medicine, Kobe, and
,
Yasushi Isashiki Department of Ophthalmology, Kagoshima University School of Medicine, Kagoshima, Japan
&
Yukihiko Mashima Department of Ophthalmology, Keio University School of Medicine, Tokyo,
Pages 187-193 | Published online: 08 Jul 2009

References

  • Brown MD, Voljavec AS, Lott MT, et al. Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. FASEB J 1992;6:2791–2799.
  • Newman NJ. Leber's hereditary optic neuropathy. New genetic considerations. Arch Neurol 1993;50:540–548.
  • Johns DR, Neufeld MJ. Cytochrome coxidase mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1993;196:810–815.
  • Brown MD, Wallace DC. Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Clin Neurosci 1994;2:138–145.
  • Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 1994;91:6206-62Io.
  • Lamminen T, Majander A, Juvonen V, et al. A mitochondrial mutation at 9101 in the ATP synthase 6 gene associated with deficiency oxidative phosphorylation in a family with Leber hereditary optic neuroretinopa-thy. Am J Hum Genet 1995;56:1238-1240. De Vries DD, Went LN, Bruyn GW, et al. 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 1996;58:703-711. Wissinger B, Besch D, Baumann B, et al. Mutation analysis of the ND6 gene in patients with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1997;234: 511–515.
  • Howell N. Primary LHON mutations: trying to separate `fruye from `char. Clin Neurosci 1994;2:130–137.
  • Brown MD, Torroni A, Reckord CL, et al. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNAs indicates multiple independent occurrences of the common mutations. Hum Mutat 1995;6:311-325. Howell N, Kubacka I, Halvorson S, et al. Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics 1995;140: 285–302.
  • Mackey DA, Oostra RJ, Rosenberg T, et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber's hereditary optic neuropathy. Am J Hum Genet 1996;59:481–485.
  • Oostra RJ, Bolhuis PA, Wijburg FA, et al. Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet 1994;31:280–286.
  • Zhang L, Huang Y, Li F, et al. The mitochondrial DNA mutation at position 11778 in Chinese families with Leber's hereditary optic neuropathy. Yen Ko Hsueh Pao (CHINA) Eye Sci 1994;10:151–156.
  • Riordan-Eva P, Sanders MD, Govan GG, et al. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995;118:319–337.
  • Nikoskelainen EK, Huoponen K, Juvonen V, et al. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 1996;103:504–514.
  • Mashima Y, Yamada K, Wakakura M, et al. Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy. Curr Eye Res 1998;17:403–408.
  • Johns DR, Heher KL, Miller NR, et al. Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. Arch Ophthalmol 1993; III :495–498.
  • Johns DR, Smith ICH, Miller NR. Leber's hereditary optic neuropathy clinical manifestations of the 3460 mutation. Arch Ophthalmol 1992;110: 1577–1581.
  • Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991;III :750–762.
  • Hotta Y, Fujuki K, Hayakawa M, et al. Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA. Jpn J Ophthalmol 1995;39: 96–'08.
  • 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.
  • Torroni A, Petrozzi M, D'Urbano L, et al. Haplotype and phylogenic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of primary mutations 11778 and 14484. Am J Hum Genet 1997;60: 1107–1121.
  • Wakakura M, Hayashi E, Toyo-oka Y, et al. Bilateral optic neuropathy with mitochondrial DNA 9804 mutation detected by non-isotopic single-strand conformational polymorphism. Neuro-ophthalmology 1998;19: 7–12.
  • Howell N. Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve. Vis Res 1997;37:3495–3507.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.