Journal of the Neurological Sciences
Volume 223, Issue 2 , Pages 149-155 , 30 August 2004

Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family

  • Vilma Kaplanová

      Affiliations

    • Institute of Physiology and Center for Integrated Genomics, Academy of Sciences of the Czech Republic, Vı́deňská 1083, Prague 142 20, Czech Republic
    • ,
  • Jiřı́ Zeman

      Affiliations

    • Department of Paediatrics, 1st Faculty of Medicine, Charles University, Ke Karlovu 2, Prague 129 08, Czech Republic
    • ,
  • Hana Hansı́ková

      Affiliations

    • Department of Paediatrics, 1st Faculty of Medicine, Charles University, Ke Karlovu 2, Prague 129 08, Czech Republic
    • ,
  • Leona Černá

      Affiliations

    • Department of Paediatrics, 1st Faculty of Medicine, Charles University, Ke Karlovu 2, Prague 129 08, Czech Republic
    • ,
  • Hana Houšt'ková

      Affiliations

    • Department of Paediatrics, 1st Faculty of Medicine, Charles University, Ke Karlovu 2, Prague 129 08, Czech Republic
    • ,
  • Naděžda Mišovicová

      Affiliations

    • Department of Medical Genetics, University Children's Hospital, Kollárova 2, Martin, Slovakia
    • ,
  • Josef Houštěk

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +42-2-41062434; fax: +42-2-41062149.
    • Institute of Physiology and Center for Integrated Genomics, Academy of Sciences of the Czech Republic, Vı́deňská 1083, Prague 142 20, Czech Republic

Received 26 February 2004 ,Revised 5 May 2004 ,Accepted 6 May 2004.

References 

  1. MITOMAP: A Human Mitochondrial Genome Database. http://www.mitomap.org.
  2. Online Mendelian Inheritance in Man OTJHU, Baltimore, MD. http://www.ncbi.nlm.nih.gov/Omim/ MIM Number: #535000.
  3. Majander A, Huoponen K, Savontaus ML, Nikoskelainen E, Wikstrom 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;292:289–292
  4. Smith PR, Cooper JM, Govan GG, Harding AE, Schapira AH. Platelet mitochondrial function in Leber's hereditary optic neuropathy. J. Neurol. Sci. 1994;122:80–83
  5. Cock HR, Tabrizi SJ, Cooper JM, Schapira AH. The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy. Ann. Neurol. 1998;44:187–193
  6. Brown MD, Trounce IA, Jun AS, Allen JC, Wallace DC. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation. J. Biol. Chem. 2000;275:39831–39836
  7. Degli Esposti M, Carelli V, Ghelli A, et al.  Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy. FEBS Lett. 1994;352:375–379
  8. Carelli V, Ghelli A, Ratta M, et al.  Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype. Neurology. 1997;48:1623–1632
  9. Lodi R, Carelli V, Cortelli P, et al.  Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy. J. Neurol. Neurosurg. Psychiatry. 2002;72:805–807
  10. Wong ACL, Collins-Schramm HE, Seldin MF, McGrogan M, Savontaus ML, Cortopassi GA. Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. Hum. Mol. Genet. 2002;11:431–438
  11. Carelli V, Giordano C, d'Amati G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear–mitochondrial interaction. Trends Genet. 2003;19:257–262
  12. Delettre C, Lenaers G, Griffoin JM, et al.  Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat. Genet. 2000;26:207–210
  13. Alexander C, Votruba M, Pesch UE, et al.  OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat. Genet. 2000;26:211–215
  14. Fox JEBRCC, Boyles JK. Studying the platelet cytoskeleton in triton X-lysates. Methods Enzymol. 1992;215:42–48
  15. Juvonen V, Nikoskelainen E, Lamminen T, Penttinen M, Aula P, Savontaus ML. Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy. Human Mutat. 1997;9:412–417
  16. Rustin P, Chretien D, Bourgeron T, et al.  Biochemical and molecular investigations in respiratory chain deficiencies. Clin. Chim. Acta. 1994;228:35–51
  17. Srere PA. Citrate synthase. Methods Enzymol. 1969;13:3–26
  18. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with Folin phenol reagent. J. Biol. Chem. 1951;193:265–275
  19. Zhu DP, Economou EP, Antonarakis SE, Maumenee IH. Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy. Am. J. Med. Genet. 1992;42:173–179
  20. Smith KH, Johns DR, Heher KL, Miller NR. Heteroplasmy in Leber's hereditary optic neuropathy. Arch. Ophthalmol. 1993;111:1486–1490
  21. Cock HR, Cooper JM, Schapira AH. Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. J. Neurol. Sci. 1999;165:10–17
  22. Kunz WS, Vielhaber S, Kudin A, et al.  Bioenergetic consequences of homoplasmic LHON mutations. In: 12th European bioenergetics conference. Arcachon, France: Elsevier; 2002;p. 189
  23. Harding AE, Sweeney MG, Govan GG, Riordan-Eva P. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am. J. Hum. Genet. 1995;57:77–86
  24. Chinnery PF, Andrews RM, Turnbull DM, Howell NN. Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?. Am. J. Med. Genet. 2001;98:235–243
  25. Howell N, Xu M, Halvorson S, Bodis-Wollner I, Sherman J. A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation. Am. J. Hum. Genet. 1994;55:203–206
  26. Yen MY, Yen TC, Pang CY, Liu JH, Wei YH. Mitochondrial DNA mutation in Leber's hereditary optic neuropathy. Invest. Ophthalmol. Vis. Sci. 1992;33:2561–2566
  27. Cormier V, Rotig A, Geny C, Cesaro P, Dufier JL, Munnich A. mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy. Am. J. Hum. Genet. 1991;48:813–814
  28. Ghazizadeh S, Taichman LB. Multiple classes of stem cells in cutaneous epithelium: a lineage analysis of adult mouse skin. EMBO J. 2001;20:1215–1222
  29. Grzybowski T, Malyarchuk BA, Czarny J, Miscicka-Sliwka D, Kotzbach R. High levels of mitochondrial DNA heteroplasmy in single hair roots: reanalysis and revision. Electrophoresis. 2003;24:1159–1165
  30. Jenuth JP, Peterson AC, Fu K, Shoubridge EA. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat. Genet. 1996;14:146–151
  31. Vergani L, Rossi R, Brierley CH, Hanna M, Holt IJ. Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human rho degrees cell lines is associated either with selection and maintenance of NARP mutant mtDNA or failure to maintain mtDNA. Hum. Mol. Genet. 1999;8:1751–1755
  32. Howell N, Mackey DA. Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy [letter]. Am. J. Hum. Genet. 1998;63:1220–1224
  33. Johns DR, Smith KH, Miller NR, Sulewski ME, Bias WB. Identical twins who are discordant for Leber's hereditary optic neuropathy. Arch. Ophthalmol. 1993;111:1491–1494
  34. Tsao K, Aitken PA, Johns DR. Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy. Br. J. Ophthalmol. 1999;83:577–581
  35. Kerrison JB, Miller NR, Hsu F, et al.  A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. Am. J. Ophthalmol. 2000;130:803–812
  36. Ghosh SS, Fahy E, Bodis-Wollner I, Sherman J, Howell N. Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing. Am. J. Hum. Genet. 1996;58:325–334
  37. Howell N, Ghosh SS, Fahy E, Bindoff LA. Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals. J. Neurol. Sci. 2000;172:1–6

PII: S0022-510X(04)00144-3

doi: 10.1016/j.jns.2004.05.001

Journal of the Neurological Sciences
Volume 223, Issue 2 , Pages 149-155 , 30 August 2004

Article Tools

* Image Usage & Resolution