Wang Xi-Qin, Yuan Fang, Yu Bao-Rui
Department of Internal Medicine, Yuhua Yunfang Integrated Traditional Chinese and Western Medicine Clinic, Shijiazhuang, Hebei, 050023, People's Republic of China.
Department of Cardiovascular Medicine, Fuwai Central China Cardiovascular Hospital, Zhengzhou, Henan, 450000, People's Republic of China.
Int J Gen Med. 2023 Oct 11;16:4617-4628. doi: 10.2147/IJGM.S422598. eCollection 2023.
Hypertrophic cardiomyopathy (HCM) is an extremely insidious and lethal disease caused by genetic variation. It has been studied for nearly 70 years since its discovery, but its cause of the disease remains a mystery. This study is aimed to explore the genetic pathogenesis of HCM in order to provide new insight for the diagnosis and treatment of HCM.
Patients with HCM at 4 hospitals from January 1, 2020, to December 31, 2021, were collected. Peripheral blood of these patients was collected for whole exome sequencing. Moreover, data on the HCM transcriptome were analyzed in the GEO database.
Totally, 14 patients were enrolled, and 6 single-nucleotide variation (SNV) mutant genes represented by MUC12 were observed. Most of the gene mutations in HCM patients were synonymous and non-synonymous, and the types of base mutations were mainly C > T and G > A. Copy number variants (CNVs) predominantly occurred on chromosome 1 in HCM patients. Furthermore, we found that the only ATP2A2 gene was differentially expressed in 3 groups of transcriptome data in GEO database, and the presence of ATP2A2 mutation in 10 samples was observed in this study.
In summary, 7 mutated genes represented by MUC12 and ATP2A2 were found in this study, which may provide novel insights into the pathogenic mechanism of HCM.
肥厚型心肌病（HCM）是一种由基因变异引起的极其隐匿且致命的疾病。自发现以来，对其研究已近70年，但病因仍不明。本研究旨在探索HCM的遗传发病机制，为HCM的诊断和治疗提供新见解。
收集2020年1月1日至2021年12月31日期间4家医院的HCM患者。采集这些患者的外周血进行全外显子组测序。此外，在GEO数据库中分析HCM转录组数据。
共纳入14例患者，观察到以MUC12为代表的6个单核苷酸变异（SNV）突变基因。HCM患者的基因突变大多为同义突变和非同义突变，碱基突变类型主要为C>T和G>A。HCM患者的拷贝数变异（CNV）主要发生在1号染色体上。此外，我们发现GEO数据库中3组转录组数据中仅ATP2A2基因存在差异表达，本研究在10个样本中观察到ATP2A2突变的存在。
综上所述，本研究发现了以MUC12和ATP2A2为代表的7个突变基因，这可能为HCM的致病机制提供新见解。
