Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome

Approximately 80% of cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harbor a heteroplasmic m.3243A>G transition in the tRNA(Leu (UUR)) (MTTL1) gene. We report a MELAS case with a rare heteroplasmic m.3243A>T mutation found by direct sequencin...

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Autores principales: Ikeda, Takahiro, Osaka, Hitoshi, Shimbo, Hiroko, Tajika, Makiko, Yamazaki, Masayo, Ueda, Ayako, Murayama, Kei, Yamagata, Takanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123423/
https://www.ncbi.nlm.nih.gov/pubmed/30210801
http://dx.doi.org/10.1038/s41439-018-0026-6
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author Ikeda, Takahiro
Osaka, Hitoshi
Shimbo, Hiroko
Tajika, Makiko
Yamazaki, Masayo
Ueda, Ayako
Murayama, Kei
Yamagata, Takanori
author_facet Ikeda, Takahiro
Osaka, Hitoshi
Shimbo, Hiroko
Tajika, Makiko
Yamazaki, Masayo
Ueda, Ayako
Murayama, Kei
Yamagata, Takanori
author_sort Ikeda, Takahiro
collection PubMed
description Approximately 80% of cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harbor a heteroplasmic m.3243A>G transition in the tRNA(Leu (UUR)) (MTTL1) gene. We report a MELAS case with a rare heteroplasmic m.3243A>T mutation found by direct sequencing of MTTL1. This mutation has been previously reported in 5 cases, of which 2 cases had the MELAS phenotype. Our case also strengthens the hypothesis that the m.3243A>T mutation can cause the MELAS phenotype.
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spelling pubmed-61234232018-09-12 Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome Ikeda, Takahiro Osaka, Hitoshi Shimbo, Hiroko Tajika, Makiko Yamazaki, Masayo Ueda, Ayako Murayama, Kei Yamagata, Takanori Hum Genome Var Data Report Approximately 80% of cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harbor a heteroplasmic m.3243A>G transition in the tRNA(Leu (UUR)) (MTTL1) gene. We report a MELAS case with a rare heteroplasmic m.3243A>T mutation found by direct sequencing of MTTL1. This mutation has been previously reported in 5 cases, of which 2 cases had the MELAS phenotype. Our case also strengthens the hypothesis that the m.3243A>T mutation can cause the MELAS phenotype. Nature Publishing Group UK 2018-09-04 /pmc/articles/PMC6123423/ /pubmed/30210801 http://dx.doi.org/10.1038/s41439-018-0026-6 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Ikeda, Takahiro
Osaka, Hitoshi
Shimbo, Hiroko
Tajika, Makiko
Yamazaki, Masayo
Ueda, Ayako
Murayama, Kei
Yamagata, Takanori
Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
title Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
title_full Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
title_fullStr Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
title_full_unstemmed Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
title_short Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
title_sort mitochondrial dna 3243a>t mutation in a patient with melas syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123423/
https://www.ncbi.nlm.nih.gov/pubmed/30210801
http://dx.doi.org/10.1038/s41439-018-0026-6
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