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Published on: August 8, 2022
Whole-Exome Sequencing Reveals Mutational Signature of Hypertrophic Cardiomyopathy
Xi-Qin Wang1, Fang Yuan2, Bao-Rui Yu2
1Department of Internal Medicine, Yuhua Yunfang Integrated Traditional Chinese and Western Medicine Clinic, Shijiazhuang, Hebei, 050023, People's Republic of China.
Insights
Genetic variations in hypertrophic cardiomyopathy (HCM) are being investigated. This study identified seven mutated genes, including MUC12 and ATP2A2, offering new insights into HCM
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Genetic Diseases
Background:
- Hypertrophic cardiomyopathy (HCM) is a severe genetic heart disease with an unknown cause.
- Despite decades of research, the precise genetic underpinnings of HCM remain elusive.
- Understanding the genetic basis of HCM is crucial for improved diagnosis and treatment.
Purpose of the Study:
- To investigate the genetic pathogenesis of hypertrophic cardiomyopathy.
- To identify novel genetic variations associated with HCM.
- To provide new insights for the diagnosis and treatment of HCM.
Main Methods:
- Collected peripheral blood samples from 14 hypertrophic cardiomyopathy patients.
- Performed whole exome sequencing on patient samples.
- Analyzed hypertrophic cardiomyopathy transcriptome data from the GEO database.
Main Results:
- Identified six single-nucleotide variation (SNV) mutant genes, including MUC12.
- Observed both synonymous and non-synonymous mutations, predominantly C > T and G > A base changes.
- Found copy number variants (CNVs) on chromosome 1 and differential expression of the ATP2A2 gene.
Conclusions:
- Identified seven mutated genes, including MUC12 and ATP2A2, implicated in HCM.
- These findings may offer novel insights into the pathogenic mechanisms of hypertrophic cardiomyopathy.
- The study contributes to understanding the genetic basis of HCM for potential diagnostic and therapeutic advancements.
Background:
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.
Methods:
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.
Results:
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.
Conclusion:
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.
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