Amphiphysin 2 (BIN1) in physiology and diseases

被引:114
作者
Prokic, Ivana [1 ,2 ,3 ,4 ,5 ]
Cowling, Belinda S. [1 ,2 ,3 ,4 ,5 ]
Laporte, Jocelyn [1 ,2 ,3 ,4 ,5 ]
机构
[1] IGBMC, Illkirch Graffenstaden, France
[2] INSERM, U964, Illkirch Graffenstaden, France
[3] CNRS, UMR7104, Illkirch Graffenstaden, France
[4] Univ Strasbourg, Illkirch Graffenstaden, France
[5] Chaire Genet Humaine, Coll France, Illkirch Graffenstaden, France
来源
JOURNAL OF MOLECULAR MEDICINE-JMM | 2014年 / 92卷 / 05期
关键词
BIN1; Centronuclear myopathy; Myotonic dystrophy; Alzheimer's disease; Cancer; c-MYC; Dynamin; TUMOR-SUPPRESSOR BIN1; SYNAPTIC VESICLE ENDOCYTOSIS; INTEGRATOR; BIN1; ALZHEIMER-DISEASE; SH3; DOMAIN; C-MYC; SUSCEPTIBILITY LOCI; CELL-PROLIFERATION; TYROSINE KINASE; POTENTIAL ROLE;
D O I
10.1007/s00109-014-1138-1
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:453 / 463
页数:11
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