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A Machine Learning Approach to Gene Expression in Hypertrophic Cardiomyopathy
Jelena Pavić1,2, Marko Živanović1, Irena Tanasković3
1Institute for Information Technologies Kragujevac, University of Kragujevac, 34000 Kragujevac, Serbia.
Insights
Gene expression analysis in hypertrophic cardiomyopathy (HCM) patients reveals altered apoptosis-regulating genes. Downregulation of CASP genes and altered BAX/BCL2 ratios may serve as novel biomarkers for disease progression.
Area of Science:
- Cardiovascular Genetics
- Molecular Biology
- Biomarker Discovery
Background:
- Hypertrophic cardiomyopathy (HCM) is a prevalent cardiac condition marked by left ventricular thickening, elevating risks of cardiac complications.
- Understanding the molecular mechanisms, specifically apoptosis regulation, is crucial for predicting HCM progression.
Purpose of the Study:
- To investigate the expression patterns of key apoptosis-regulating genes (CASP8, CASP9, CASP3, BAX, BCL2) in blood samples from HCM patients.
- To explore the potential of these genes as biomarkers for monitoring HCM disease progression.
Main Methods:
- Quantitative real-time PCR (qPCR) was employed to measure gene expression in 93 HCM patients.
- Correlation analyses were performed on apoptosis-regulating genes, integrating clinical parameters for feature importance and clustering.
Main Results:
- Significant downregulation of CASP8, CASP9, and CASP3 was observed in most HCM patients.
- BAX expression was elevated in 71% of patients, and BCL2 in 55%, with weak negative correlations between the BAX/BCL2 ratio and CASP gene expression.
Conclusions:
- Reduced expression of specific apoptotic genes may represent a protective cellular response in HCM.
- These gene expression profiles hold potential as biomarkers for HCM progression, warranting further investigation for therapeutic strategies.
Background/Objectives:
Hypertrophic cardiomyopathy (HCM) is a common heart disorder characterized by the thickening of the heart muscle, particularly in the left ventricle, which increases the risk of cardiac complications. This study aims to analyze the expression of apoptosis-regulating genes (CASP8, CASP9, CASP3, BAX, and BCL2) in blood samples from HCM patients, to better understand their potential as biomarkers for disease progression.
Methods:
Quantitative real-time PCR (qPCR) was used to evaluate gene expression in blood samples from 93 HCM patients. The correlation between apoptosis-regulating genes was conducted and clinical parameters were integrated for feature importance and clustering analysis.
Results:
Most patients exhibited significant downregulation of CASP8, CASP9, and CASP3. In contrast, BAX expression was elevated in 71 out of 93 patients, while BCL2 was increased in 55 out of 93 patients. Correlation analysis revealed weak negative correlations between the BAX/BCL2 ratio and CASP gene expression.
Conclusions:
These findings suggest that reduced expression of apoptotic genes may indicate a protective cellular mechanism, which could serve as a biomarker for disease progression. Further studies are needed to investigate the potential for therapeutic modulation of these pathways to improve patient outcomes.
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