Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhou, Nianwei, Tang, Lu, Jiang, Yingying, Qin, Shengmei, Cui, Jie, Wang, Yanan, Zhu, Wenqing, Zhao, Weipeng, Pan, Cuizhen, Shu, Xianhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kare Publishing 2019
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
_version_ 1783396745614458880
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
work_keys_str_mv AT zhounianwei wholeexomesequencingrevealsanovelmutationofmtnd5geneinamitochondrialcardiomyopathypedigreepatientswhoshowbiventricularhypertrophyhyperlactacidemiapulmonaryhypertensionanddecreasedexercisetolerance
AT tanglu wholeexomesequencingrevealsanovelmutationofmtnd5geneinamitochondrialcardiomyopathypedigreepatientswhoshowbiventricularhypertrophyhyperlactacidemiapulmonaryhypertensionanddecreasedexercisetolerance
AT jiangyingying wholeexomesequencingrevealsanovelmutationofmtnd5geneinamitochondrialcardiomyopathypedigreepatientswhoshowbiventricularhypertrophyhyperlactacidemiapulmonaryhypertensionanddecreasedexercisetolerance
AT qinshengmei wholeexomesequencingrevealsanovelmutationofmtnd5geneinamitochondrialcardiomyopathypedigreepatientswhoshowbiventricularhypertrophyhyperlactacidemiapulmonaryhypertensionanddecreasedexercisetolerance
AT cuijie wholeexomesequencingrevealsanovelmutationofmtnd5geneinamitochondrialcardiomyopathypedigreepatientswhoshowbiventricularhypertrophyhyperlactacidemiapulmonaryhypertensionanddecreasedexercisetolerance
AT wangyanan wholeexomesequencingrevealsanovelmutationofmtnd5geneinamitochondrialcardiomyopathypedigreepatientswhoshowbiventricularhypertrophyhyperlactacidemiapulmonaryhypertensionanddecreasedexercisetolerance
AT zhuwenqing wholeexomesequencingrevealsanovelmutationofmtnd5geneinamitochondrialcardiomyopathypedigreepatientswhoshowbiventricularhypertrophyhyperlactacidemiapulmonaryhypertensionanddecreasedexercisetolerance
AT zhaoweipeng wholeexomesequencingrevealsanovelmutationofmtnd5geneinamitochondrialcardiomyopathypedigreepatientswhoshowbiventricularhypertrophyhyperlactacidemiapulmonaryhypertensionanddecreasedexercisetolerance
AT pancuizhen wholeexomesequencingrevealsanovelmutationofmtnd5geneinamitochondrialcardiomyopathypedigreepatientswhoshowbiventricularhypertrophyhyperlactacidemiapulmonaryhypertensionanddecreasedexercisetolerance
AT shuxianhong wholeexomesequencingrevealsanovelmutationofmtnd5geneinamitochondrialcardiomyopathypedigreepatientswhoshowbiventricularhypertrophyhyperlactacidemiapulmonaryhypertensionanddecreasedexercisetolerance