Article
Previously Unclassified Mutation of mtDNA m.3472T>C: Evidence of Pathogenicity in Leber's Hereditary Optic Neuropathy.
Biochemistry. Biokhimiia - 1 Jul 2016
Sheremet N L, Nevinitsyna T A, Zhorzholadze N V, Ronzina I A, Itkis Y S, Krylova T D, Tsygankova P G, Malakhova V A, Zakharova E Y, Tokarchuk A V, Panteleeva A A, Karger E M, Lyamzaev K G, Avetisov S E
Abstract excerpt
Leber's hereditary optic neuropathy (LHON) refers to a group of mitochondrial diseases and is characterized by defects of the mitochondrial electron transport chain and decreased level of oxidative phosphorylation. The list of LHON primary mtDNA mutations is regularly updated. In this study, we describe the homoplasmic nucleotide substitution m.3472T>C in the MT-ND1 (NADH-ubiquinone oxidoreductase chain 1) gene...
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