Article
Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity.
PloS one - 1 Jan 2016
Cruz-Bermúdez Alberto, Vicente-Blanco Ramiro J, Hernández-Sierra Rosana, Montero Mayte, Alvarez Javier, González Manrique Mar, Blázquez Alberto, Martín Miguel Angel, Ayuso Carmen, Garesse Rafael, Fernández-Moreno Miguel A
Abstract excerpt
The presence of more than one non-severe pathogenic mutation in the same mitochondrial DNA (mtDNA) molecule is very rare. Moreover, it is unclear whether their co-occurrence results in an additive impact on mitochondrial function relative to single mutation effects. Here we describe the first example of a mtDNA molecule harboring three Leber's hereditary optic neuropathy (LHON)-associated mutations (m.11778G>A,...
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