Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants
| العنوان: | Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants |
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| المؤلفون: | 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 |
| المساهمون: | Peverelli L., Catania A., Marchet S., Ciasca P., Cammarata G., Melzi L., Bellino A., Fancellu R., Lamantea E., Capristo M., Caporali L., La Morgia C., Carelli V., Ghezzi D., Bianchi Marzoli S., Lamperti C. |
| المصدر: | Frontiers in Neurology, Vol 12 (2021) Frontiers in Neurology |
| بيانات النشر: | Frontiers Media S.A., 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Mitochondrial DNA, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, mitochondrial respiratory chain, Biology, Optic neuropathy, 03 medical and health sciences, LHON, 0302 clinical medicine, medicine, Missense mutation, Leber optic atrophy, RC346-429, Gene, Sequence (medicine), Genetics, transmitochondrial cybrids, complex I, Point mutation, Leber's hereditary optic neuropathy, Brief Research Report, medicine.disease, eye diseases, 030104 developmental biology, Mitochondrial respiratory chain, Neurology, Neurology (clinical), Neurology. Diseases of the nervous system, 030217 neurology & neurosurgery |
| الوصف: | 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. |
| وصف الملف: | ELETTRONICO |
| اللغة: | English |
| تدمد: | 1664-2295 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b504022a573ac2dd00e2e19784023e9Test https://www.frontiersin.org/articles/10.3389/fneur.2021.657317/fullTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8b504022a573ac2dd00e2e19784023e9 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16642295 |
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