Title of article :
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
Author/Authors :
Zhou, Nianwei Department of Echocardiography - Zhongshan Hospital - Fudan University - Shanghai Institute of Cardiovascular Disease - Shanghai Institute of Medical Imaging - Shanghai - China , Tang, Lu Department of Echocardiography - Zhongshan Hospital - Fudan University - Shanghai Institute of Cardiovascular Disease - Shanghai Institute of Medical Imaging - Shanghai - China , Jiang, Yingying Department of Echocardiography - Zhongshan Hospital - Fudan University - Shanghai Institute of Cardiovascular Disease - Shanghai Institute of Medical Imaging - Shanghai - China , Qin, Shengmei Department of Cardiology - Zhongshan Hospital - Fudan University - Shanghai Institute of Cardiovascular Disease - Shanghai Institute of Medical Imaging - Shanghai - China , Cui, Jie Department of Cardiology - Zhongshan Hospital - Fudan University - Shanghai Institute of Cardiovascular Disease - Shanghai Institute of Medical Imaging - Shanghai - China , Wang, Yanan Department of Echocardiography - Zhongshan Hospital - Fudan University - Shanghai Institute of Cardiovascular Disease - Shanghai Institute of Medical Imaging - Shanghai - China , Zhu, Wenqing Department of Cardiology - Zhongshan Hospital - Fudan University - Shanghai Institute of Cardiovascular Disease - Shanghai Institute of Medical Imaging - Shanghai - China , Zhao, Weipeng Department of Echocardiography - Zhongshan Hospital - Fudan University - Shanghai Institute of Cardiovascular Disease - Shanghai Institute of Medical Imaging - Shanghai - China , Pan, Cuizhen Department of Echocardiography - Zhongshan Hospital - Fudan University - Shanghai Institute of Cardiovascular Disease - Shanghai Institute of Medical Imaging - Shanghai - China , Shu, Xianhong Department of Echocardiography - Zhongshan Hospital - Fudan University - Shanghai Institute of Cardiovascular Disease - Shanghai Institute of Medical Imaging - Shanghai - China
Abstract :
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.
Keywords :
MT-ND5 , whole-exome sequencing , cardiomyopathy , pulmonary hypertension
Journal title :
The Anatolian Journal of Cardiology: Andolu Kardiyoloji Dergisi
