دورية أكاديمية
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: | 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. |
| 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. |
| سنة النشر: | 2021 |
| المجموعة: | IRIS Università degli Studi di Bologna (CRIS - Current Research Information System) |
| مصطلحات موضوعية: | complex I, Leber optic atrophy, LHON, mitochondrial respiratory chain, transmitochondrial cybrids |
| 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | ELETTRONICO |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/34177762; info:eu-repo/semantics/altIdentifier/wos/WOS:000664512900001; volume:12; firstpage:657317; lastpage:657317; numberofpages:8; journal:FRONTIERS IN NEUROLOGY; info:eu-repo/grantAgreement/EC/H2020/825575; http://hdl.handle.net/11585/864626Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108421550; https://doi.org/10.3389/fneur.2021.657317Test |
| DOI: | 10.3389/fneur.2021.657317 |
| الإتاحة: | https://doi.org/10.3389/fneur.2021.657317Test http://hdl.handle.net/11585/864626Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.8EAEF733 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3389/fneur.2021.657317 |
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