Journal of Molecular Medicine

, Volume 92, Issue 5, pp 453–463 | Cite as

Amphiphysin 2 (BIN1) in physiology and diseases

  • Ivana Prokic
  • Belinda S. Cowling
  • Jocelyn Laporte
Review
First Online:
Received:
Revised:
Accepted:

Abstract

Amphiphysin 2, also named bridging integrator-1 (BIN1) or SH3P9, has been recently implicated in rare and common diseases affecting different tissues and physiological functions. BIN1 downregulation is linked to cancer progression and also correlates with ventricular cardiomyopathy and arrhythmia preceding heart failure. Increased BIN1 expression is linked to increased susceptibility for late-onset Alzheimer’s disease. In addition, altered splicing may account for the muscle component of myotonic dystrophies, while recessive germinal mutations cause centronuclear myopathy. Despite undoubtedly underlining the relevance of BIN1 in human diseases, the molecular and cellular bases leading to such different diseases are unclear at present. BIN1 is a key regulator of endocytosis and membrane recycling, cytoskeleton regulation, DNA repair, cell cycle progression, and apoptosis. In light of the recent findings on the molecular, cellular, and physiological roles of BIN1, we discuss potential pathological mechanisms and highlight common disease pathways and also tissue-specific regulation. Next challenges will be to validate BIN1 both as a prognostic marker for the related diseases and as a potential therapeutic target.

Keywords

BIN1 Centronuclear myopathy Myotonic dystrophy Alzheimer’s disease Cancer c-MYC Dynamin 
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Notes

Acknowledgements

We apologize to colleagues whose work was not cited because of space limitations. A.P. is supported by Association Francaise contre les Myopathies, B.S.C. by a fellowship from Fondation Recherche Médicale and J.L. by the Institut National de la Santé et de la Recherche Médicale and by a translational research stipend with Assistance Publique–Hôpitaux de Paris.

Conflict of interest

The authors declare that they have no conflict of interests.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Ivana Prokic
    • 1
    • 2
    • 3
    • 4
    • 5
  • Belinda S. Cowling
    • 1
    • 2
    • 3
    • 4
    • 5
  • Jocelyn Laporte
    • 1
    • 2
    • 3
    • 4
    • 5
  1. 1.IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire)IllkirchFrance
  2. 2.InsermIllkirchFrance
  3. 3.CNRSIllkirchFrance
  4. 4.Université de StrasbourgIllkirchFrance
  5. 5.Collège de France, chaire de génétique humaineIllkirchFrance

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