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A recent study from the Polytechnic University of Marche in Ancona, Italy, explores the clinical significance of rare splice-site alterations in genes involved in sudden cardiac death (SCD) and channelopathies. SCD is an unexpected death of cardiac origin that occurs within 1 hour of acute symptoms. The study focuses on channelopathies, which are inherited diseases caused by mutations affecting genes encoding membrane ion channels or cellular structures that affect calcium availability. The researchers discuss the challenges in diagnosing these diseases and the need for further studies to interpret and classify splice-site variants. They also highlight the potential of in silico studies as future perspectives in genetics. [Extracted from the article]

A recent study conducted by researchers at the Polytechnic University of Marche in Ancona, Italy, explores the role of miRNA expression profiles in cases of sudden cardiac death (SCD). SCD is a leading cause of death worldwide, and current diagnostic methods do not always provide a definitive answer. The study suggests that analyzing the expression levels of miRNAs, a class of non-coding RNA, could serve as a potential biomarker for SCD cases and help distinguish the underlying causes of cardiac death. The researchers summarize various experiments and findings related to miRNA expression in SCD cases, including tissue analysis, circulating cell-free miRNAs in blood, and exosomal miRNAs from serum. Further research is needed to fully understand the implications of miRNA expression in SCD. [Extracted from the article]