PMID: 16523671Mar 10, 2006Paper

Spectrum of pathogenic mtDNA mutations in Leber hereditary optic neuropathy families from Siberia

Genetika
N V Volod'koRem I Sukernik

Abstract

The results of clinical, genealogical and molecular investigation of eighteen families with Leber hereditary optic neuropathy (LHON), identified on the territory of Siberia during the period from 1997 to 2005, are presented. Comprehensive analysis of mitochondrial genome variations in probands and their matrilineal relatives revealed the presence of relatively frequent (G11778A, G3460A, and T14484C), as well as rare and new mutations with the established or presumptive pathological effect (T10663C, G363A, C4640T, and A14619G). The G11778A mutation was detected in nine pedigrees (50%), mostly in the families of ethnic Russians. In eight of these families G11778A was found in preferred association with the coding-region substitutions, typical of western Eurasian mtDNA lineage (haplogroup) TJ. On the contrary, the G3460A mutation was detected in the three families belonging to the indigenous Siberian populations (Tuvinians, Altaians, and Buryats). It was associated with clearly different haplotypes of eastern Eurasian haplogroups, C3, D5, and D8. Unexpectedly, the G3460A de novo mutation was found in a large Tuvinian pedigree. At the same time, in eleven out of fourteen families of Caucasoid origin pathogenic mutations in the ND g...Continue Reading

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Citations

Nov 26, 2010·Molekuliarnaia biologiia·I O MazuninR I Sukernik
Jan 15, 2014·Journal of Applied Genetics·Ludmiła Grzybowska-Szatkowska, Brygida Slaska
May 18, 2018·Vestnik oftalmologii·I O Mazunin, N V Volodko
Jan 8, 2016·Human Molecular Genetics·Ian J WilsonPatrick F Chinnery

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