A Machine Learning Approach to Gene Expression in Hypertrophic Cardiomyopathy.

IF 4.3 3区医学 Q2 CHEMISTRY, MEDICINAL Pharmaceuticals Pub Date : 2024-10-12 DOI:10.3390/ph17101364

Jelena Pavić, Marko Živanović, Irena Tanasković, Ognjen Pavić, Vesna Stanković, Katarina Virijević, Tamara Mladenović, Jelena Košarić, Bogdan Milićević, Safi Ur Rehman Qamar, Lazar Velicki, Ivana Novaković, Andrej Preveden, Dejana Popović, Milorad Tesić, Stefan Seman, Nenad Filipović

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Abstract

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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肥厚型心肌病基因表达的机器学习方法

背景/目的：肥厚型心肌病（HCM）是一种常见的心脏疾病，其特点是心肌增厚，尤其是左心室，从而增加了心脏并发症的风险。本研究旨在分析 HCM 患者血液样本中细胞凋亡调节基因（CASP8、CASP9、CASP3、BAX 和 BCL2）的表达情况，以更好地了解它们作为疾病进展生物标志物的潜力：方法：采用定量实时 PCR（qPCR）技术评估 93 例 HCM 患者血液样本中的基因表达。方法：采用定量实时 PCR（qPCR）技术对 93 例 HCM 患者血液样本中的基因表达进行评估，分析凋亡调节基因之间的相关性，并整合临床参数进行特征重要性和聚类分析：结果：大多数患者的 CASP8、CASP9 和 CASP3 表达明显下调。相比之下，93 名患者中有 71 人的 BAX 表达升高，而 93 名患者中有 55 人的 BCL2 表达升高。相关性分析显示，BAX/BCL2 比值与 CASP 基因表达呈弱负相关：这些研究结果表明，凋亡基因表达的减少可能预示着一种细胞保护机制，可作为疾病进展的生物标志物。还需要进一步研究这些通路的治疗调节潜力，以改善患者的预后。

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来源期刊

Pharmaceuticals Pharmacology, Toxicology and Pharmaceutics-Pharmaceutical Science

CiteScore

6.10

自引率

4.30%

发文量

1332

审稿时长

6 weeks

期刊介绍： Pharmaceuticals (ISSN 1424-8247) is an international scientific journal of medicinal chemistry and related drug sciences.Our aim is to publish updated reviews as well as research articles with comprehensive theoretical and experimental details. Short communications are also accepted; therefore, there is no restriction on the maximum length of the papers.