| Autor: |
Lorenzo Peverelli, Alessia Catania, Silvia Marchet, Paola Ciasca, Gabriella Cammarata, Lisa Melzi, Antonella Bellino, Roberto Fancellu, Eleonora Lamantea, Mariantonietta Capristo, Leonardo Caporali, Chiara La Morgia, Valerio Carelli, Daniele Ghezzi, Stefania Bianchi Marzoli, Costanza Lamperti |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Frontiers in Neurology, Vol 12 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1664-2295 |
| DOI: |
10.3389/fneur.2021.657317 |
| Popis: |
Leber's hereditary optic neuropathy (LHON) is due to missense point mutations affecting mitochondrial DNA (mtDNA); 90% of cases harbor the m.3460G>A, m.11778G>A, and m.14484T>C primary mutations. Here, we report and discuss five families with patients affected by symptomatic LHON, in which we found five novel mtDNA variants. Remarkably, these mtDNA variants are located in complex I genes, though without strong deleterious effect on respiration in cellular models: this finding is likely linked to the tissue specificity of LHON. This study observes that in the case of a strong clinical suspicion of LHON, it is recommended to analyze the whole mtDNA sequence, since new rare mtDNA pathogenic variants causing LHON are increasingly identified. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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