Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity. [artículo]
Por: Cruz Bermúdez, Alberto [Instituto de Investigación i+12]
| Vicente Blanco, Ramiro J [Instituto de Investigación imas12] | Hernández Sierra, Rosana [Instituto de Investigación I+12] | Blázquez Encinar, Alberto [Instituto de Investigación i+12] | Martín, Miguel Ángel [Instituto de investigación imas12] | Garesse, Rafael [Instituto de Investigación i+12] | Fernández Moreno, Miguel Ángel [Instituto de Investigación i+12].
Colaborador(es): Instituto de Investigación imas12.
Tipo de material: 
ArtículoEditor: PloS one, 2016Descripción: 11(1):e0146816.Recursos en línea: Acceso libre Resumen: 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, m.14484T>C, m.11253T>C) and the analysis of its genetic, biochemical and molecular characterization in transmitochondrial cells (cybrids). Extensive characterization of cybrid cell lines harboring either the 3 mutations or the single classic m.11778G>A and m.14484T>C mutations revealed no differences in mitochondrial function, demonstrating the absence of a synergistic effect in this model system. These molecular results are in agreement with the ophthalmological characteristics found in the triple mutant patient, which were similar to those carrying single mtDNA LHON mutations.
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Formato Vancouver:
Cruz Bermúdez A, Vicente Blanco RJ, Hernández Sierra R, Montero M, Alvarez J, González Manrique M et al. Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity. PLoS One. 2016 Jan 19;11(1):e0146816.
PMID: 26784702
PMC4718627
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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, m.14484T>C, m.11253T>C) and the analysis of its genetic, biochemical and molecular characterization in transmitochondrial cells (cybrids). Extensive characterization of cybrid cell lines harboring either the 3 mutations or the single classic m.11778G>A and m.14484T>C mutations revealed no differences in mitochondrial function, demonstrating the absence of a synergistic effect in this model system. These molecular results are in agreement with the ophthalmological characteristics found in the triple mutant patient, which were similar to those carrying single mtDNA LHON mutations.
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