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2002 | 49 | 1 | 257-262
Article title

Heteroplasmy analysis in the Polish patients with 11778A mutation responsible for Leber hereditary optic neuropathy.

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Abstracts
EN
We have analysed the heteroplasmy level in 11 individuals from 3 families harbouring the mitochondrial 11778A mutation responsible for Leber hereditary optic neuropathy using last cycle hot PCR. The mutation level exceeded 90% both in affected and in unaffected individuals. We also checked whether any of the families belonged to the J haplogroup of mitochondrial DNA and obtained a negative result.
Year
Volume
49
Issue
1
Pages
257-262
Physical description
Dates
published
2002
received
2001-12-3
accepted
2002-02-12
References
  • 1. Howell, N. (1999) Human mitochondrial diseases: Answering questions and questioning answers. Int. Rev. Cytol. 186, 49-111.
  • 2. Leber, T. (1871) Ueber hereditaere und congenital angelegte Sehnervenleiden. Graefes Arch. Ophthal. 17, 249-291.
  • 3. Wallace, D.C. (1970) A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance. Brain. 93, 121-132.
  • 4. Nishimura, M., Obayashi, H., Ohta, M., Uchiyama, T., Hao, Q. & Saida, T. (1995) No association of the 11778 mitochondrial DNA mutation and multiple sclerosis in Japan. Neurology. 45, 1333-1334.
  • 5. Leuzzi, V., Carducci, C., Lenza, M., Salvetti, M., Ristori, G., Di Giovanni, S. & Torroni, A. (1997) LHON mutations in Italian patients affected by multiple sclerosis. Acta Neurol. Scand. 96, 145-148.
  • 6. Anderson, S., Bankier, A.T., Barrell, B.G., de Bruijn, M.H.L., Coulson, A.R., Drouin, J., Eperon, I.C., Nierlich, D.P., Roe, B.A., Sanger, F., Schreier, P.H., Smith, A.J.H., Staden, R. & Young, I.G. (1981) Sequence and organization of the human mitochondrial genome. Nature. 290, 457-465.
  • 7. Torroni, A., Petrozzi, M., D'Urbano, L., Sellitto, D., Zeviani, M., Carrara, F., Carducci, C., Leuzzi, V., Carelli, V., Barboni, P., De Negri, A. & Scozzari, R. (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. Hum. Genet. 60, 1107-11021.
  • 8. Brown, M.D., Sun, F. & Wallace, D.C. ( 1997) Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am. J. Hum. Genet. 60, 381-387.
  • 9. Chalmers, R.M., Davis, M.B., Sweeney, M.G., Wood, N.W. & Harding, A.E. (1996) Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy. Am. J. Hum. Genet. 59, 103-108.
  • 10. Novotny, E.J., Singh, G., Wallace, D.C., Dorfman, L.J., Louis, A., Sogg, R.L. & Steinman, L. (1986) Leber's disease and dystonia: A mitochondrial disease. Neurology. 36, 1053-1060.
  • 11. Brown, M.D., Trounce, I.A., Jun, A.S., Allen, J.C. & Wallace, D.C. (2000) Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation. J. Biol. Chem. 275, 39831-39836.
  • 12. Vergani, L., Martinuzzi, A., Carelli, V., Cortelli, P., Montagna, P., Schievano, G., Carrozzo, R., Angelini, C. & Lugaresi, E. (1995) mtDNA mutations associated with Leber's hereditary optic neuropathy: Studies on cytoplasmic hybrid (cybrid) cells. Biochem. Biophys. Res. Commun. 210, 880-888.
Document Type
Publication order reference
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv49i1p257kz
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