Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Engvall, Martin, Kawasaki, Aki, Carelli, Valerio, Wibom, Rolf, Bruhn, Helene, Lesko, Nicole, Schober, Florian A., Wredenberg, Anna, Wedell, Anna, Träisk, Frank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
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
_version_ 1783675788897288192
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
work_keys_str_mv AT engvallmartin casereportanovelmutationinthemitochondrialmtnd5geneisassociatedwithleberhereditaryopticneuropathylhon
AT kawasakiaki casereportanovelmutationinthemitochondrialmtnd5geneisassociatedwithleberhereditaryopticneuropathylhon
AT carellivalerio casereportanovelmutationinthemitochondrialmtnd5geneisassociatedwithleberhereditaryopticneuropathylhon
AT wibomrolf casereportanovelmutationinthemitochondrialmtnd5geneisassociatedwithleberhereditaryopticneuropathylhon
AT bruhnhelene casereportanovelmutationinthemitochondrialmtnd5geneisassociatedwithleberhereditaryopticneuropathylhon
AT leskonicole casereportanovelmutationinthemitochondrialmtnd5geneisassociatedwithleberhereditaryopticneuropathylhon
AT schoberfloriana casereportanovelmutationinthemitochondrialmtnd5geneisassociatedwithleberhereditaryopticneuropathylhon
AT wredenberganna casereportanovelmutationinthemitochondrialmtnd5geneisassociatedwithleberhereditaryopticneuropathylhon
AT wedellanna casereportanovelmutationinthemitochondrialmtnd5geneisassociatedwithleberhereditaryopticneuropathylhon
AT traiskfrank casereportanovelmutationinthemitochondrialmtnd5geneisassociatedwithleberhereditaryopticneuropathylhon