Abstract:
Amphiphysin-2 is a ubiquitously expressed protein also known as bridging integrator 1 (BIN1), playing a critical role in membrane remodeling, trafficking, and cytoskeleton dynamics in a wide range of tissues. Mutations in the gene encoding BIN1 cause centronuclear myopathies (CNM), and recent evidence has implicated BIN1 in heart failure, underlining its crucial role in both skeletal and cardiac muscle. Furthermore, altered expression of BIN1 is linked to an increased risk of late-onset Alzheimer\'s disease and several types of cancer, including breast, colon, prostate, and lung cancers. Recently, the first proof-of-concept for potential therapeutic strategies modulating BIN1 were obtained for muscle diseases. In this review article, we discuss the similarities and differences in BIN1\'s functions in cardiac and skeletal muscle, along with its associated diseases and potential therapies.
摘要:
Amphiphysin-2是一种广泛表达的蛋白质,也称为桥接整合因子1(BIN1)。在膜重塑中起关键作用,贩运,和广泛组织中的细胞骨架动力学。编码BIN1的基因突变导致核中央肌病(CNM),最近的证据表明BIN1与心力衰竭有关,强调其在骨骼肌和心肌中的关键作用。此外,BIN1表达的改变与晚发性阿尔茨海默病和几种癌症的风险增加有关,包括乳房,结肠,前列腺,和肺癌。最近,首次获得了调节BIN1治疗肌肉疾病的潜在治疗策略的概念验证.在这篇评论文章中,我们讨论了BIN1在心肌和骨骼肌中的功能的异同,与其相关的疾病和潜在的治疗方法。