Cortical neuronal migration and formation of filamentous actin cytoskeleton, needed for development, normal cell growth and differentiation, are regulated by the cyclin-dependent kinase 5 (Cdk5). Attention deficit hyperactivity disorder (ADHD) is associated with delayed maturation of the brain and hence we hypothesized that cdk5 may have a role in ADHD. Eight functional CDK5 gene variants were analyzed in 848 Indo-Caucasoid individuals including 217 families with ADHD probands and 250 healthy volunteers. Only three variants, rs2069454, rs2069456 and rs2069459, predicted to affect transcription, were found to be bimorphic. Significant difference in rs2069456 "AC" genotype frequency was noticed in the probands, more specifically in the males. Family based analysis revealed over transmission of rs2069454 "C" and rs2069456 "A" to the probands. Quantitative trait analysis exhibited association of haplotypes with inattention, domain specific impulsivity, and behavioral problem, though no significant contribution was noticed on the age of onset of ADHD. Gene variants also showed significant association with cognitive function and co-morbidity. Probands having rs2069459 "TT" showed betterment during follow up. It may be inferred from this pilot study that CDK5 may affect ADHD etiology, possibly by attenuating synaptic neurotransmission and could be a useful target for therapeutic intervention.

译文

发育,正常细胞生长和分化所需的皮质神经元迁移和丝状肌动蛋白细胞骨架的形成,由细胞周期蛋白依赖性激酶5 (Cdk5) 调节。注意缺陷多动障碍 (ADHD) 与大脑的延迟成熟有关,因此我们假设cdk5可能在ADHD中起作用。在848个印度-高加索人个体中分析了八个功能性CDK5基因变异,包括217个ADHD先证者家庭和250个健康志愿者。仅发现三个可能影响转录的变体rs2069454,rs2069456和rs2069459是双态的。在先证者中,尤其是在男性中,发现rs2069456 “AC” 基因型频率存在显着差异。基于家庭的分析揭示了rs2069454 “C” 和rs2069456 “A” 向先证者的传输。数量性状分析显示单倍型与注意力不集中,领域特定的冲动性和行为问题相关,尽管在ADHD发病年龄上没有发现明显的贡献。基因变异也显示出与认知功能和合并症的显着关联。rs2069459 “TT” 先证者在随访期间显示出改善。从这项初步研究中可以推断出,CDK5可能会影响ADHD的病因,可能会减弱突触神经传递,并且可能是治疗干预的有用靶标。

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