Titin, the largest protein known, has attracted a lot of interest in the cardiovascular field in recent years, since the discovery that truncating variants in titin are commonly found in patients with dilated cardiomyopathy. This review will discuss the contribution of variants in titin to inherited cardiac conditions (cardiomyopathies) and how model systems, such as animals and cellular systems, can help to provide insights into underlying disease mechanisms. It will also give an outlook onto exciting technological developments, such as in the field of CRISPR, which may facilitate future research on titin variants and their contributions to cardiomyopathies.

中文翻译：

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巨人蛋白：如何评估其在心肌病中的作用。

自从发现在扩张型心肌病患者中普遍发现titin的截断变体以来，Titin是已知的最大蛋白质，近年来在心血管领域引起了很多兴趣。这篇综述将讨论替丁变异体对遗传性心脏病（心肌病）的贡献，以及诸如动物和细胞系统之类的模型系统如何帮助提供对潜在疾病机制的见解。它还将展望令人兴奋的技术发展，例如在CRISPR领域，这可能会促进titin变体及其对心肌病的贡献的未来研究。