The potential role of CAMSAP1L1 in symptomatic epilepsy
Publication in refereed journal

香港中文大學研究人員
替代計量分析
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其它資訊
摘要In a recent genome-wide association study (GWAS) of symptomatic epilepsy in the Chinese population, the most significant single nucleotide polymorphism (SNP) allele was rs2292096 [G] (P=1.0×10-8, odds ratio [OR]=0.63), in the CAMSAP1L1 gene (also known as CAMSAP2). Here, we report that rs2292096 genotypes tended to associate with expression of CAMSAP1L1 RNA in the temporal lobe (p=0.054) and hippocampus (p=0.20) of epilepsy surgery patients, with expression tending to increase with the G allele. CAMSAP1L1 and β-tubulin double immunofluorescence exhibited partial overlap. CAMSAP1L1 siRNA transfection of human SH-SY5Y neuroblastoma cells treated with or without retinoic acid reduced the CAMSAP1L1 protein level nearly 60% and stimulated neurite outgrowth, as measured by total length, number of processes and number of branches. Therefore, the rs2292096 G allele of CAMSAP1L1, which was associated with reduced risk of symptomatic epilepsy, tended to associate with increased expression of CAMSAP1L1, which represses neurite outgrowth. Greater neurite growth in response to brain insults might increase formation of ectopic neural circuits and thus the risk of epileptogenesis. © 2013 Elsevier Ireland Ltd.
著者Zhang S., Kwan P., Baum L.
期刊名稱Neuroscience Letters
出版年份2013
月份11
日期27
卷號556
出版社Elsevier BV
出版地Netherlands
頁次146 - 151
國際標準期刊號0304-3940
電子國際標準期刊號1872-7972
語言英式英語
關鍵詞CAMSAP1L1, CAMSAP2, Epileptogenesis, Neurites, Symptomatic epilepsy

上次更新時間 2020-02-12 於 01:15