Zhou Nianwei, Tang Lu, Jiang Yingying, Qin Shengmei, Cui Jie, Wang Yanan, Zhu Wenqing, Zhao Weipeng, Pan Cuizhen, Shu Xianhong
Department of Echocardiography, Zhongshan Hospital, Fudan University, Shanghai Institute of Cardiovascular Disease, Shanghai Institute of Medical Imaging; Shanghai-China.
Anatol J Cardiol. 2019 Jan;21(1):18-24. doi: 10.14744/AnatolJCardiol.2018.53258.
The aim of the present study was to determine whether pathogenic mutations were present in families with mitochondrial cardiomyopathy that presented during adolescence.
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.
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.
In the present study, we identified a novel mutation of MT-ND5, c.1315A>G (p.Thr439Ala), in a family pedigree using WES.
本研究的目的是确定青春期出现的线粒体心肌病家族中是否存在致病突变。
先证者是一名21岁男性，临床症状为心悸、胸闷、肺动脉高压和运动耐量受限。心脏磁共振成像研究显示双心室心肌肥厚。我们通过全外显子组测序（WES）来确定家族中是否存在致病突变。
使用串联质谱法对该家族进行筛查，结果显示乳酸水平升高、戊二酸尿症、戊二酰肉碱与辛酰肉碱的比值轻度升高，以及血液α-葡萄糖苷酶正常，这与呼吸链复合体1代谢紊乱一致。我们鉴定出MT-ND5的一个新突变，即c.1315A>G（p.Thr439Ala）。骨骼肌活检组织学显示主要为破碎红纤维，少量破碎蓝纤维，这与线粒体肌病一致。
在本研究中，我们通过WES在一个家系中鉴定出MT-ND5的一个新突变，即c.1315A>G（p.Thr439Ala）。
