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用于评估组织损伤的组学技术最新进展:对心脏性猝死研究的启示

The Latest Advances in Omics Technology for Assessing Tissue Damage: Implications for the Study of Sudden Cardiac Death.

作者信息

Căținaș Raluca-Maria, Hostiuc Sorin

机构信息

Department of Legal Medicine and Bioethics, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.

National Institute of Legal Medicine, 042122 Bucharest, Romania.

出版信息

Int J Mol Sci. 2025 Jul 16;26(14):6818. doi: 10.3390/ijms26146818.

Abstract

Sudden cardiac death (SCD) is a major public health concern, being a leading cause of death worldwide. SCD is particularly alarming for individuals with apparently good health, as it often occurs without preceding warning signs. Unfortunately, traditional autopsy methods frequently fail to identify the precise cause of death in these cases, highlighting the need for advanced techniques to elucidate underlying mechanisms. Recent advances in molecular biology over the past few years, particularly in proteomics, transcriptomics, and metabolomics techniques, have led to an expanded understanding of gene expression, protein activity, and metabolic changes, offering valuable insights into fatal cardiac events. Combining multi-omics methods with bioinformatics and machine learning algorithms significantly enhances our ability to uncover the processes behind lethal cardiac dysfunctions by identifying new useful biomarkers (like cardiac myosin-binding protein C, acylcarnitines, or microRNAs) to reveal molecular pathways linked to SCD. This narrative review summarizes the role of multi-omics approaches in forensic diagnosis by exploring current applications in unexplained cases and the benefits of integrating merged techniques in otherwise negative autopsies. We also discuss the potential for developing personalized and preventive forensic medicine, the technical limitations of currently available methods, and the ethical considerations arising from these advancements.

摘要

心源性猝死(SCD)是一个重大的公共卫生问题,是全球主要的死亡原因。对于看似健康的个体而言,SCD尤其令人担忧,因为它常常在没有先兆迹象的情况下发生。不幸的是,传统的尸检方法在这些病例中常常无法确定确切的死亡原因,这凸显了采用先进技术来阐明潜在机制的必要性。在过去几年中,分子生物学,特别是蛋白质组学、转录组学和代谢组学技术取得的最新进展,使人们对基因表达、蛋白质活性和代谢变化有了更广泛的认识,为致命性心脏事件提供了有价值的见解。将多组学方法与生物信息学和机器学习算法相结合,通过识别新的有用生物标志物(如心肌肌球蛋白结合蛋白C、酰基肉碱或微小RNA)来揭示与SCD相关的分子途径,显著增强了我们揭示致命性心脏功能障碍背后过程的能力。这篇叙述性综述通过探讨当前在不明原因病例中的应用以及在其他阴性尸检中整合合并技术的益处,总结了多组学方法在法医诊断中的作用。我们还讨论了发展个性化和预防性法医学的潜力、现有方法的技术局限性以及这些进展引发的伦理考量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/42ab/12295138/9765dc7dc94b/ijms-26-06818-g001.jpg

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