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Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)
Leber hereditary optic neuropathy (LHON) is a mitochondrial disease causing severe bilateral visual loss, typically in young adults. The disorder is commonly caused by one of three primary point mutations in mitochondrial DNA, but a number of other rare mutations causing or associated with the clini...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8027302/ https://www.ncbi.nlm.nih.gov/pubmed/33841319 http://dx.doi.org/10.3389/fneur.2021.652590 |
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author | Engvall, Martin Kawasaki, Aki Carelli, Valerio Wibom, Rolf Bruhn, Helene Lesko, Nicole Schober, Florian A. Wredenberg, Anna Wedell, Anna Träisk, Frank |
author_facet | Engvall, Martin Kawasaki, Aki Carelli, Valerio Wibom, Rolf Bruhn, Helene Lesko, Nicole Schober, Florian A. Wredenberg, Anna Wedell, Anna Träisk, Frank |
author_sort | Engvall, Martin |
collection | PubMed |
description | Leber hereditary optic neuropathy (LHON) is a mitochondrial disease causing severe bilateral visual loss, typically in young adults. The disorder is commonly caused by one of three primary point mutations in mitochondrial DNA, but a number of other rare mutations causing or associated with the clinical syndrome of LHON have been reported. The mutations in LHON are almost exclusively located in genes encoding subunits of complex I in the mitochondrial respiratory chain. Here we report two patients, a mother and her son, with the typical LHON phenotype. Genetic investigations for the three common mutations were negative, instead we found a new and previously unreported mutation in mitochondrial DNA. This homoplasmic mutation, m.13345G>A, is located in the MT-ND5 gene, encoding a core subunit in complex I in the mitochondrial respiratory chain. Investigation of the patients mitochondrial respiratory chain in muscle found a mild defect in the combined activity of complex I+III. In the literature six other mutations in the MT-ND5 gene have been associated with LHON and by this report a new putative mutation in the MT-ND5 can be added. |
format | Online Article Text |
id | pubmed-8027302 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-80273022021-04-09 Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON) Engvall, Martin Kawasaki, Aki Carelli, Valerio Wibom, Rolf Bruhn, Helene Lesko, Nicole Schober, Florian A. Wredenberg, Anna Wedell, Anna Träisk, Frank Front Neurol Neurology Leber hereditary optic neuropathy (LHON) is a mitochondrial disease causing severe bilateral visual loss, typically in young adults. The disorder is commonly caused by one of three primary point mutations in mitochondrial DNA, but a number of other rare mutations causing or associated with the clinical syndrome of LHON have been reported. The mutations in LHON are almost exclusively located in genes encoding subunits of complex I in the mitochondrial respiratory chain. Here we report two patients, a mother and her son, with the typical LHON phenotype. Genetic investigations for the three common mutations were negative, instead we found a new and previously unreported mutation in mitochondrial DNA. This homoplasmic mutation, m.13345G>A, is located in the MT-ND5 gene, encoding a core subunit in complex I in the mitochondrial respiratory chain. Investigation of the patients mitochondrial respiratory chain in muscle found a mild defect in the combined activity of complex I+III. In the literature six other mutations in the MT-ND5 gene have been associated with LHON and by this report a new putative mutation in the MT-ND5 can be added. Frontiers Media S.A. 2021-03-25 /pmc/articles/PMC8027302/ /pubmed/33841319 http://dx.doi.org/10.3389/fneur.2021.652590 Text en Copyright © 2021 Engvall, Kawasaki, Carelli, Wibom, Bruhn, Lesko, Schober, Wredenberg, Wedell and Träisk. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Engvall, Martin Kawasaki, Aki Carelli, Valerio Wibom, Rolf Bruhn, Helene Lesko, Nicole Schober, Florian A. Wredenberg, Anna Wedell, Anna Träisk, Frank Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON) |
title | Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON) |
title_full | Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON) |
title_fullStr | Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON) |
title_full_unstemmed | Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON) |
title_short | Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON) |
title_sort | case report: a novel mutation in the mitochondrial mt-nd5 gene is associated with leber hereditary optic neuropathy (lhon) |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8027302/ https://www.ncbi.nlm.nih.gov/pubmed/33841319 http://dx.doi.org/10.3389/fneur.2021.652590 |
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