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. Copyright © 2024 Elsevier Ltd. All rights reserved.

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Quentin Giraud, Jocelyn Laporte. Amphiphysin-2 (BIN1) functions and defects in cardiac and skeletal muscle. Trends in molecular medicine. 2024 Jun;30(6):579-591

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PMID: 38514365

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