Section of Legal Medicine, Department of Biomedical Sciences and Public Health, Polytechnic University of Marche, Via Tronto, 60126 Ancona, Italy.
Legal Medicine Unit, AOU Azienda Ospedaliero Universitaria delle Marche, 60126 Ancona, Italy.
Genes (Basel). 2023 Oct 17;14(10):1954. doi: 10.3390/genes14101954.
Sudden cardiac death (SCD) is one of the leading causes of death in the world and for this reason it has attracted the attention of numerous researchers in the field of legal medicine. It is not easy to determine the cause in a SCD case and the available methods used for diagnosis cannot always give an exhaustive answer. In addition, the molecular analysis of genes does not lead to a clear conclusion, but it could be interesting to focus attention on the expression level of miRNAs, a class of non-coding RNA of about 22 nucleotides. The role of miRNAs is to regulate the gene expression through complementary binding to 3'-untraslated regions of miRNAs, leading to the inhibition of translation or to mRNA degradation. In recent years, several studies were performed with the aim of exploring the use of these molecules as biomarkers for SCD cases, and to also distinguish the causes that lead to cardiac death. In this review, we summarize experiments, evidence, and results of different studies on the implication of miRNAs in SCD cases. We discuss the different biological starting materials with their respective advantages and disadvantages, studying miRNA expression on tissue (fresh-frozen tissue and FFPE tissue), circulating cell-free miRNAs in blood of patients affected by cardiac disease at high risk of SCD, and exosomal miRNAs analyzed from serum of people who died from SCD.
心脏性猝死 (SCD) 是世界上主要的死亡原因之一,因此引起了法医学领域众多研究人员的关注。在 SCD 病例中,确定死因并不容易,并且可用于诊断的现有方法并不总能给出详尽的答案。此外,对基因的分子分析也不能得出明确的结论,但关注 miRNA 的表达水平可能会很有趣,miRNA 是一类约 22 个核苷酸的非编码 RNA。miRNA 的作用是通过与 miRNA 的 3'-非翻译区互补结合来调节基因表达,从而抑制翻译或导致 mRNA 降解。近年来,进行了多项研究,旨在探索将这些分子用作 SCD 病例的生物标志物,并区分导致心脏性死亡的原因。在这篇综述中,我们总结了 miRNA 在 SCD 病例中的作用的不同研究的实验、证据和结果。我们讨论了不同的生物起始材料及其各自的优缺点,研究了组织(新鲜冷冻组织和 FFPE 组织)上的 miRNA 表达、患有 SCD 高风险心脏病的患者血液中的循环无细胞 miRNA,以及从 SCD 死亡者的血清中分析的外泌体 miRNA。