骺软骨素-2(BIN1)在心肌和骨骼肌中的功能和缺陷

IF 12.8 1区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Trends in molecular medicine Pub Date : 2024-06-01 Epub Date: 2024-03-20 DOI:10.1016/j.molmed.2024.02.005
Quentin Giraud, Jocelyn Laporte
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引用次数: 0

摘要

两性蛋白-2 是一种普遍表达的蛋白质,又称桥接整合蛋白 1 (BIN1),在多种组织的膜重塑、运输和细胞骨架动力学中发挥着关键作用。编码 BIN1 的基因发生突变会导致中心核肌病(CNM),最近有证据表明 BIN1 与心力衰竭有关,从而强调了它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(包括乳腺癌、结肠癌、前列腺癌和肺癌)风险的增加有关。最近,针对肌肉疾病的 BIN1 潜在治疗策略首次获得了概念验证。在这篇综述文章中,我们将讨论 BIN1 在心肌和骨骼肌中功能的异同及其相关疾病和潜在疗法。
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Amphiphysin-2 (BIN1) functions and defects in cardiac and skeletal muscle.

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.

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来源期刊
Trends in molecular medicine
Trends in molecular medicine 医学-生化与分子生物学
CiteScore
24.60
自引率
0.00%
发文量
142
审稿时长
6-12 weeks
期刊介绍: Trends in Molecular Medicine (TMM) aims to offer concise and contextualized perspectives on the latest research advancing biomedical science toward better diagnosis, treatment, and prevention of human diseases. It focuses on research at the intersection of basic biology and clinical research, covering new concepts in human biology and pathology with clear implications for diagnostics and therapy. TMM reviews bridge the gap between bench and bedside, discussing research from preclinical studies to patient-enrolled trials. The major themes include disease mechanisms, tools and technologies, diagnostics, and therapeutics, with a preference for articles relevant to multiple themes. TMM serves as a platform for discussion, pushing traditional boundaries and fostering collaboration between scientists and clinicians. The journal seeks to publish provocative and authoritative articles that are also accessible to a broad audience, inspiring new directions in molecular medicine to enhance human health.
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