BIN1 (amphiphysin 2) in the pathogenesis of cognitive impairment

As shown by a genome-wide association study (GWAS), the Bridging Integrator 1 (BIN1) gene is the second most important genetic locus associated with Alzheimer’s disease risk, after apolipoprotein E (APOE). Amphiphysin 2 (Bin1), encoded by this gene, is an adaptor protein involved in the regulation of synaptic vesicular transport and neurotransmission. In Alzheimer’s disease patients, Bin1 protein expression was found to be altered in several regions of the brain, including the hippocampus, which may affect Tau-dependent neurologic conditions and disease progression. This review presents current data on the structure, functions, and potential role of Bin1 in the pathogenesis of cognitive impairment of varying severity, as well as the potential use of allelic polymorphisms of the BIN1 gene for diagnosing cognitive impairment and assessing AD risk.