Clinical Unit Cambridge, GlaxoSmithKline, UK;
Brain Mapping Unit, Department of Psychiatry, University of Cambridge, UK; ; School of Psychology and Psychiatry, Monash University, Australia; ; Neuroscience Discovery Medicine, UCB Pharma, Belgium.
Curr Neuropharmacol. 2014 May;12(3):281-8. doi: 10.2174/1570159X11666140104001553.
There has been a great deal of interest recently in genetic effects on neurocognitive performance in the healthy population. KIBRA -a postsynaptic protein from the WWC family of proteins- was identified in 2003 in the human brain and kidney and has recently been associated with memory performance and synaptic plasticity. Through genome-wide screening, a single nucleotide polymorphism (SNP) was detected in the ninth intron of KIBRA gene (T→ C substitution) and was implicated in human memory and the underlying neuronal circuitry. This review presents a synopsis of the current findings on the effects of the KIBRA SNP on human memory and synaptic plasticity. Overall the findings suggest impaired memory performance and less efficient or impaired hippocampal/medial temporal lobe (MTL) activation in CC homozygotes (in comparison to T carriers) with some differences between young and older subjects. This review also highlights limitations and potential sources for variability of studies' imaging findings along with future perspectives and implications for the role of KIBRA in memory-related brain systems.
最近,人们对健康人群的神经认知表现的遗传效应产生了浓厚的兴趣。KIBRA-一种来自 WWC 蛋白家族的突触后蛋白-于 2003 年在人脑和肾脏中被发现,最近与记忆表现和突触可塑性有关。通过全基因组筛选,在 KIBRA 基因的第九个内含子中检测到一个单核苷酸多态性(SNP)(T→C 取代),并与人类记忆和潜在的神经元回路有关。这篇综述总结了 KIBRA SNP 对人类记忆和突触可塑性影响的最新发现。总的来说,这些发现表明 CC 纯合子(与 T 携带者相比)的记忆表现受损,海马/内侧颞叶(MTL)激活效率较低或受损,而年轻和老年受试者之间存在一些差异。这篇综述还强调了研究成像结果的变异性的局限性和潜在来源,以及 KIBRA 在与记忆相关的大脑系统中的作用的未来展望和影响。