ArticlePloS one2016
Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON).PloS one · 2023Article
- Clinical Overview of Leber Hereditary Optic Neuropathy.Acta medica Lituanic · 2022Review
- MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.Nucleic acids research · 2021Article
- The Role of Mitochondrial Dysfunction in Vascular Disease, Tumorigenesis, and Diabetes.Frontiers in molecular biosciences · 2021Review
- XIAP Protects Retinal Ganglion Cells in the Mutant ND4 Mouse Model of Leber Hereditary Optic Neuropathy.Investigative ophthalmology & visual science · 2020Article
- Impaired Metabolic Flexibility in the Osteoarthritis Process: A Study on Transmitochondrial Cybrids.Cells · 2020Article
- Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6.Journal of neurology · 2020Article
- PGC-1alpha levels correlate with survival in patients with stage III NSCLC and may define a new biomarker to metabolism-targeted therapy.Scientific reports · 2017Article
- Beyond cervical lipomas: myoclonus, gait disorder and multisystem involvement leading to mitochondrial disease.BMJ case reports · 2017Article
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Authors and funding
11 authors.
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Abstract
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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