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Bridging Integrator 1 (BIN1)

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Genetic Variants in Alzheimer's Disease

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Abstract

Bridging integrator 1 (BIN1) is a nucleocytoplasmic adaptor protein with at least ten isoforms currently recognised. BIN1 was initially identified in 1996 as a putative tumour suppressor; however, subsequent functions have been attributed to the different protein transcripts. BIN1 is coded for by a single gene on chromosome 2q14. The genomic architecture has proved elusive, and it is only recently that a total of 20 exons have been conclusively identified. The promoter region still remains to be definitively characterised, though the presence of a CpG island containing multiple transcription factor binding sites has been suggested.

As regards being a genetic risk factor for Alzheimer’s disease, BIN1 was initially identified by polymorphisms approximately 30 kb upstream of the gene generating a suggestive association in the first large genome-wide association studies in 2009. A conclusive association was attained in 2010, which corroborated the original findings. Subsequent replication and validation has followed, BIN1 is now considered second only to APOE e2/3/4 as a genetic risk factor. A role in clathrin mediated endocytosis and thus synaptic plasticity has been suggested to result in cognitive defects observed in Alzheimer’s disease.

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  1. Human Genetics, School of Molecular Medical Sciences, Queen’s Medical Centre, University of Nottingham, Nottingham, NG7 2UH, UK

    James Turton & Kevin Morgan

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    Kevin Morgan

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Turton, J., Morgan, K. (2013). Bridging Integrator 1 (BIN1). In: Morgan, K., Carrasquillo, M. (eds) Genetic Variants in Alzheimer's Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-7309-1_6

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