Purpose of Review

The giant protein titin forms the “elastic” filament of the sarcomere, essential for the mechanical compliance of the heart muscle. Titin serves a biological spring, and therefore structural modifications of titin affect function of the myocardium and are associated with heart failure and cardiomyopathy.

Recent Findings

In this review, we discuss the current understanding of titin’s biophysical properties and how modifications contribute to cardiac function and heart failure. In addition, we review the most recent data on the clinical impact and phenotype heterogeneity of TTN truncating variants, including diseases involving striated muscles, and prospects for future therapies.

Summary

Because of the giant structure of the titin protein and the complexity of its function, titin’s role in health and disease is not yet completely understood. Future research efforts need to focus on novel therapeutic approaches able to modulate titin transcriptional and post-translational modification.

中文翻译：

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肌节弹簧蛋白肌动蛋白：与心力衰竭和心肌病相关的生物物理特性、分子机制和基因突变

审查目的

巨大的蛋白质肌动蛋白形成肌节的“弹性”细丝，对心肌的机械顺应性至关重要。Titin 是一个生物泉，因此 Titin 的结构修饰会影响心肌的功能，并与心力衰竭和心肌病有关。

最近的发现

在这篇综述中，我们讨论了目前对titin 生物物理特性的理解以及修饰如何导致心脏功能和心力衰竭。此外，我们回顾了有关 TTN 截断变体的临床影响和表型异质性的最新数据，包括涉及横纹肌的疾病，以及未来治疗的前景。

概括

由于肌联蛋白的巨大结构及其功能的复杂性，肌联蛋白在健康和疾病中的作用尚不完全清楚。未来的研究工作需要关注能够调节肌动蛋白转录和翻译后修饰的新治疗方法。