Department of Movement, Human and Health Sciences, University of Rome "Foro Italico", Rome, Italy.
Cell Stress Chaperones. 2018 Jul;23(4):491-505. doi: 10.1007/s12192-017-0866-x. Epub 2017 Nov 30.
All organisms and cells respond to various stress conditions such as environmental, metabolic, or pathophysiological stress by generally upregulating, among others, the expression and/or activation of a group of proteins called heat shock proteins (HSPs). Among the HSPs, special attention has been devoted to the mutations affecting the function of the αB-crystallin (HSPB5), a small heat shock protein (sHsp) playing a critical role in the modulation of several cellular processes related to survival and stress recovery, such as protein degradation, cytoskeletal stabilization, and apoptosis. Because of the emerging role in general health and disease conditions, the main objective of this mini-review is to provide a brief account on the role of HSPB5 in mammalian muscle physiopathology. Here, we report the current known state of the regulation and localization of HSPB5 in skeletal and cardiac tissue, making also a critical summary of all human HSPB5 mutations known to be strictly associated to specific skeletal and cardiac diseases, such as desmin-related myopathies (DRM), dilated (DCM) and restrictive (RCM) cardiomyopathy. Finally, pointing to putative strategies for HSPB5-based therapy to prevent or counteract these forms of human muscular disorders.
所有生物和细胞都会对各种应激条件（如环境、代谢或病理生理学应激）做出反应，一般会上调一组称为热休克蛋白 (HSPs) 的蛋白质的表达和/或激活。在 HSPs 中，特别关注的是影响 αB-晶体蛋白 (HSPB5) 功能的突变，αB-晶体蛋白是一种小热休克蛋白 (sHsp)，在调节与生存和应激恢复相关的几种细胞过程中起着关键作用，如蛋白质降解、细胞骨架稳定和细胞凋亡。由于其在一般健康和疾病状况中的作用不断显现，本综述的主要目的是简要介绍 HSPB5 在哺乳动物肌肉生理病理学中的作用。在这里，我们报告了 HSPB5 在骨骼肌和心肌组织中的调节和定位的最新已知状态，并对所有已知与特定骨骼肌和心脏病严格相关的人类 HSPB5 突变进行了批判性总结，如肌联蛋白相关肌病 (DRM)、扩张型 (DCM) 和限制型 (RCM) 心肌病。最后，提出了基于 HSPB5 的治疗的可能策略，以预防或对抗这些形式的人类肌肉疾病。
