University of Parma, Department of Chemistry, Life Sciences and Environmental Sustainability, Parco Area Delle Scienze 11A, 43124, Parma, Italy.
University of Parma, Department of Food and Drug, Parco Area Delle Scienze 17A, 43124, Parma, Italy.
Mutat Res Rev Mutat Res. 2020 Oct-Dec;786:108325. doi: 10.1016/j.mrrev.2020.108325. Epub 2020 Jul 31.
Cardiovascular disease is the leading cause of death in industrialized countries and affects an increasing number of people. Several risk factors play an important role in the etiology of this disease, such as an unhealthy lifestyle. It is increasingly clear that genetic factors influencing the molecular basis of excitation-contraction mechanisms in the heart could contribute to modify the individual's risk. Thanks to the progress that has been made in understanding calcium signaling in the heart, it is assumed that calmodulin can play a crucial role in the excitation-contraction coupling. In fact, calmodulin (CaM) binds calcium and consequently regulates calcium channels. Several works show how some polymorphic variants can be considered predisposing factors to complex pathologies. Therefore, we hypothesize that the identification of polymorphic variants of proteins involved in the CaM pathway could be important for understanding how genetic traits can influence predisposition to myocardial infarction. This review considers each pathway of the three different isoforms of calmodulin (CaM1; CaM2; CaM3) and focuses on some common proteins involved in the three pathways, with the aim of analyzing the polymorphisms studied in the literature and understanding if they are associated with cardiovascular disease.
心血管疾病是工业化国家的主要死亡原因，越来越多的人受到影响。一些风险因素在这种疾病的病因中起着重要作用，例如不健康的生活方式。越来越明显的是，影响心脏兴奋-收缩机制分子基础的遗传因素可能有助于改变个体的风险。由于在理解心脏钙信号方面取得了进展，可以假设钙调蛋白可以在兴奋-收缩偶联中发挥关键作用。事实上，钙调蛋白（CaM）结合钙，从而调节钙通道。一些研究表明，某些多态性变体可被视为复杂病理的易患因素。因此，我们假设鉴定参与 CaM 途径的蛋白质的多态性变体对于理解遗传特征如何影响心肌梗死易感性可能很重要。本综述考虑了钙调蛋白（CaM1；CaM2；CaM3）的三种不同同工型的每条途径，并重点分析了三种途径中涉及的一些常见蛋白质，目的是分析文献中研究的多态性，并了解它们是否与心血管疾病相关。
