Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism
Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism
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DOI：
10.1016/j.bbrc.2007.02.135
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发表时间：
2007-04-27
影响因子：
3.1
通讯作者：
Mori, Norio
中科院分区：
文献类型：
--
作者：
Nishimura, Katsuhiko;Nakamura, Kazuhiko;Mori, Norio
自闭症是一种严重的神经发育障碍，其特征是社交和沟通缺陷以及在儿童早期就可以检测到的仪式重复行为。脑源性神经营养因子（BDNF）在自闭症的发病机制中起着至关重要的作用。在这项研究中，我们在一项基于三胞胎的关联研究（自闭症遗传资源交换）中检测了BDNF与自闭症的SNP和单倍型关联。我们还检测了未用药自闭症患者和对照组外周血淋巴细胞中BDNF mRNA的表达。在自闭症三人组的TDT中，SNP单倍型组合在自闭症组中表现出显著的相关性。BDNF在药物初治组中的表达明显高于对照组。我们认为BDNF可能通过其对血清素能系统的神经营养作用在自闭症的发病机制中起作用。(c) 2007爱思唯尔公司版权所有。
Autism is a severe neurodevelopmental disorder defined by social and communication deficits and ritualistic-repetitive behaviors that are detectable in early childhood. Brain-derived neurotrophic factor (BDNF) plays a critical role in the pathogenesis of autism. In this study, we examined the SNP- and haplotypic-association of BDNF with autism in a trios-based association study (the Autism Genetic Resource Exchange). We also examined the expression of BDNF mRNA in the peripheral blood lymphocytes of drug-naive autism patients and control subjects. In the TDT of autism trios, the SNP haplotype combinations showed significant associations in the autism group. BDNF expression in the drug-naive autistic group was found to be significantly higher than in the control group. We suggest that BDNF has a possible role in the pathogenesis of autism through its neurotrophic effects on the serotonergic system. (c) 2007 Elsevier Inc. All rights reserved.