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A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report

We discuss the involvement of nuclear genetic variants correlating to observed phenotype in this case study. In January 2020, the 19-year-old boy from Nantong, Jiangsu Province, China with epilepsy symptom was identified to have myelin loss in the motor and sensory nerves in the electromyogram exami...

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Autores principales: Chu, Xin, Dai, Jie, Cui, Hengxiang, Shen, Hailin, Wu, Qi, Zhu, Xiangyang, Zhu, Baofeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9874192/
https://www.ncbi.nlm.nih.gov/pubmed/36742238
http://dx.doi.org/10.18502/ijph.v51i12.11473
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author Chu, Xin
Dai, Jie
Cui, Hengxiang
Shen, Hailin
Wu, Qi
Zhu, Xiangyang
Zhu, Baofeng
author_facet Chu, Xin
Dai, Jie
Cui, Hengxiang
Shen, Hailin
Wu, Qi
Zhu, Xiangyang
Zhu, Baofeng
author_sort Chu, Xin
collection PubMed
description We discuss the involvement of nuclear genetic variants correlating to observed phenotype in this case study. In January 2020, the 19-year-old boy from Nantong, Jiangsu Province, China with epilepsy symptom was identified to have myelin loss in the motor and sensory nerves in the electromyogram examination. Brain magnetic resonance imaging (MRI) demonstrated high-intensity areas of small multifocal gray matter regions in the bilateral temporal, parietal, and occipital lobes. In the serum of the patient, the levels of lactate dehydrogenase (LDH) and lactic acid were higher than the normal range values in multiple tests. By subsequent whole exome sequencing (WES) including analysis of the mitochondrial genome, the patient was revealed to carry an m.3243A>G mutation in mitochondria MTTL1 gene which was confirmed by direct Sanger sequencing analysis. Thus, disease of the patient was diagnosed as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. According to WES analysis, the patient also carried multiple homozygous variants, which correlating to myelinloss and epilepsy in nuclear genes. The peripheral neuropathy of the patient carrying single mitochondrial m.3243A>G mutation could be caused by multiple nuclear DNA defect.
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spelling pubmed-98741922023-02-02 A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report Chu, Xin Dai, Jie Cui, Hengxiang Shen, Hailin Wu, Qi Zhu, Xiangyang Zhu, Baofeng Iran J Public Health Case Report We discuss the involvement of nuclear genetic variants correlating to observed phenotype in this case study. In January 2020, the 19-year-old boy from Nantong, Jiangsu Province, China with epilepsy symptom was identified to have myelin loss in the motor and sensory nerves in the electromyogram examination. Brain magnetic resonance imaging (MRI) demonstrated high-intensity areas of small multifocal gray matter regions in the bilateral temporal, parietal, and occipital lobes. In the serum of the patient, the levels of lactate dehydrogenase (LDH) and lactic acid were higher than the normal range values in multiple tests. By subsequent whole exome sequencing (WES) including analysis of the mitochondrial genome, the patient was revealed to carry an m.3243A>G mutation in mitochondria MTTL1 gene which was confirmed by direct Sanger sequencing analysis. Thus, disease of the patient was diagnosed as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. According to WES analysis, the patient also carried multiple homozygous variants, which correlating to myelinloss and epilepsy in nuclear genes. The peripheral neuropathy of the patient carrying single mitochondrial m.3243A>G mutation could be caused by multiple nuclear DNA defect. Tehran University of Medical Sciences 2022-12 /pmc/articles/PMC9874192/ /pubmed/36742238 http://dx.doi.org/10.18502/ijph.v51i12.11473 Text en Copyright © 2022 Chu et al. Published by Tehran University of Medical Sciences https://creativecommons.org/licenses/by-nc/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International license (https://creativecommons.org/licenses/by-nc/4.0/). Non-commercial uses of the work are permitted, provided the original work is properly cited.
spellingShingle Case Report
Chu, Xin
Dai, Jie
Cui, Hengxiang
Shen, Hailin
Wu, Qi
Zhu, Xiangyang
Zhu, Baofeng
A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report
title A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report
title_full A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report
title_fullStr A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report
title_full_unstemmed A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report
title_short A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report
title_sort patient with melas syndrome carried an m.3243a>g mutation in mitochondrial dna and multiple nuclear genetic variants: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9874192/
https://www.ncbi.nlm.nih.gov/pubmed/36742238
http://dx.doi.org/10.18502/ijph.v51i12.11473
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