PL EN


Preferencje help
Widoczny [Schowaj] Abstrakt
Liczba wyników
2002 | 49 | 1 |
Tytuł artykułu

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

Treść / Zawartość
Warianty tytułu
Języki publikacji
EN
Abstrakty
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.
Wydawca
-
Rocznik
Tom
49
Numer
1
Opis fizyczny
p.257-262,fig.
Twórcy
  • University of Warsaw, Warsaw, Poland
autor
autor
autor
autor
autor
autor
Bibliografia
  • 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.
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.agro-article-d0df2d3b-11bb-48d3-97a4-4225d7db09af
JavaScript jest wyłączony w Twojej przeglądarce internetowej. Włącz go, a następnie odśwież stronę, aby móc w pełni z niej korzystać.