Alkam Duah, Feldman Ezra Z, Singh Awantika, Kiaei Mahmoud
Department of Pharmacology and Toxicology, The University of Arkansas for Medical Sciences, Little Rock, AR, 72223, USA.
Department of Neurology, The University of Arkansas for Medical Sciences, Little Rock, AR, 72223, USA.
Cell Mol Life Sci. 2017 Mar;74(6):967-981. doi: 10.1007/s00018-016-2372-1. Epub 2016 Sep 26.
Profilins were discovered in the 1970s and were extensively studied for their significant physiological roles. Profilin1 is the most prominent isoform and has drawn special attention due to its role in the cytoskeleton, cell signaling, and its link to conditions such as cancer and vascular hypertrophy. Recently, multiple mutations in the profilin1 gene were linked to amyotrophic lateral sclerosis (ALS). In this review, we will discuss the physiological and pathological roles of profilin1. We will further highlight the cytoskeletal function and dysfunction caused by profilin1 dysregulation. Finally, we will discuss the implications of mutant profilin1 in various diseases with an emphasis on its contribution to the pathogenesis of ALS.
1970年代发现了肌动蛋白结合蛋白，并因其重要的生理作用而受到广泛研究。肌动蛋白结合蛋白1是最主要的异构体，由于其在细胞骨架、细胞信号传导中的作用以及与癌症和血管肥大等病症的关联而备受关注。最近，肌动蛋白结合蛋白1基因的多个突变与肌萎缩侧索硬化症（ALS）有关。在本综述中，我们将讨论肌动蛋白结合蛋白1的生理和病理作用。我们将进一步强调由肌动蛋白结合蛋白1失调引起的细胞骨架功能和功能障碍。最后，我们将讨论突变型肌动蛋白结合蛋白1在各种疾病中的影响，重点是其对ALS发病机制的贡献。
