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Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance
OBJECTIVE: The aim of the present study was to determine whether pathogenic mutations were present in families with mitochondrial cardiomyopathy that presented during adolescence. METHODS: The proband was a 21-year-old man who presented clinically with palpitations, chest tightness, pulmonary hypert...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Kare Publishing
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382902/ https://www.ncbi.nlm.nih.gov/pubmed/30587702 http://dx.doi.org/10.14744/AnatolJCardiol.2018.53258 |
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author | Zhou, Nianwei Tang, Lu Jiang, Yingying Qin, Shengmei Cui, Jie Wang, Yanan Zhu, Wenqing Zhao, Weipeng Pan, Cuizhen Shu, Xianhong |
author_facet | Zhou, Nianwei Tang, Lu Jiang, Yingying Qin, Shengmei Cui, Jie Wang, Yanan Zhu, Wenqing Zhao, Weipeng Pan, Cuizhen Shu, Xianhong |
author_sort | Zhou, Nianwei |
collection | PubMed |
description | OBJECTIVE: The aim of the present study was to determine whether pathogenic mutations were present in families with mitochondrial cardiomyopathy that presented during adolescence. METHODS: The proband was a 21-year-old man who presented clinically with palpitations, chest tightness, pulmonary hypertension, and limited exercise tolerance. Cardiac magnetic resonance imaging studies showed biventricular cardiac hypertrophy. We determine whether pathogenic mutations were present by whole-exome sequencing (WES) in families. RESULTS: Screening of the family using tandem mass spectrometry showed elevated lactic acid levels, glutaric aciduria, a mildly increased glutarylcarnitine-to-octanoylcarnitine ratio, and normal blood α-glucosidase, which was consistent with a respiratory chain complex 1 metabolic disorder. We identified a novel mutation of MT-ND5, c.1315A>G (p.Thr439Ala). Skeletal muscle biopsy histology showed predominantly ragged red fibers and few ragged blue fibers, which was consistent with mitochondrial myopathy. CONCLUSION: In the present study, we identified a novel mutation of MT-ND5, c.1315A>G (p.Thr439Ala), in a family pedigree using WES. |
format | Online Article Text |
id | pubmed-6382902 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Kare Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-63829022019-02-27 Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance Zhou, Nianwei Tang, Lu Jiang, Yingying Qin, Shengmei Cui, Jie Wang, Yanan Zhu, Wenqing Zhao, Weipeng Pan, Cuizhen Shu, Xianhong Anatol J Cardiol Original Investigation OBJECTIVE: The aim of the present study was to determine whether pathogenic mutations were present in families with mitochondrial cardiomyopathy that presented during adolescence. METHODS: The proband was a 21-year-old man who presented clinically with palpitations, chest tightness, pulmonary hypertension, and limited exercise tolerance. Cardiac magnetic resonance imaging studies showed biventricular cardiac hypertrophy. We determine whether pathogenic mutations were present by whole-exome sequencing (WES) in families. RESULTS: Screening of the family using tandem mass spectrometry showed elevated lactic acid levels, glutaric aciduria, a mildly increased glutarylcarnitine-to-octanoylcarnitine ratio, and normal blood α-glucosidase, which was consistent with a respiratory chain complex 1 metabolic disorder. We identified a novel mutation of MT-ND5, c.1315A>G (p.Thr439Ala). Skeletal muscle biopsy histology showed predominantly ragged red fibers and few ragged blue fibers, which was consistent with mitochondrial myopathy. CONCLUSION: In the present study, we identified a novel mutation of MT-ND5, c.1315A>G (p.Thr439Ala), in a family pedigree using WES. Kare Publishing 2019-01 2018-12-18 /pmc/articles/PMC6382902/ /pubmed/30587702 http://dx.doi.org/10.14744/AnatolJCardiol.2018.53258 Text en Copyright: © 2018 Turkish Society of Cardiology http://creativecommons.org/licenses/by-nc-sa/4.0 This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License |
spellingShingle | Original Investigation Zhou, Nianwei Tang, Lu Jiang, Yingying Qin, Shengmei Cui, Jie Wang, Yanan Zhu, Wenqing Zhao, Weipeng Pan, Cuizhen Shu, Xianhong Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance |
title | Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance |
title_full | Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance |
title_fullStr | Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance |
title_full_unstemmed | Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance |
title_short | Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance |
title_sort | whole-exome sequencing reveals a novel mutation of mt-nd5 gene in a mitochondrial cardiomyopathy pedigree: patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance |
topic | Original Investigation |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382902/ https://www.ncbi.nlm.nih.gov/pubmed/30587702 http://dx.doi.org/10.14744/AnatolJCardiol.2018.53258 |
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