CCR3 gene overexpression in patients with Down syndrome_Salemi et al._Mol Biol Rep 2021

Chromosome 21 trisomy or Down syndrome (DS) is the most common genetic cause of intellectual disability (ID). DS is also associated with hypotonia, muscle weakness, autoimmune diseases, and congenital heart disease. C-C chemokine receptor type 3 (CCR3) plays a role in inflammatory, autoimmune, and neuronal migration mechanisms. The present study aimed to evaluate the expression of the CCR3 gene by NGS and qRT-PCR in patients with DS and normal controls (NC). The CCR3 gene was over-expressed in DS patients compared to NC. These data suggest that an over-expression of the CCR3 gene is associated with the phenotype of patients with DS.21号染色体三体（Chromosome 21 trisomy）即唐氏综合征（Down syndrome, DS），是引发智力障碍（intellectual disability, ID）最常见的遗传病因。唐氏综合征还可伴随肌张力低下、肌无力、自身免疫性疾病及先天性心脏病等病症。C-C型趋化因子受体3（C-C chemokine receptor type 3, CCR3）参与炎症、自身免疫及神经元迁移相关的生理机制。本研究旨在通过下一代测序（Next-Generation Sequencing, NGS）与实时定量逆转录聚合酶链反应（quantitative real-time reverse transcription PCR, qRT-PCR），检测唐氏综合征患者与正常对照（normal controls, NC）体内CCR3基因的表达水平。结果显示，相较于正常对照，唐氏综合征患者体内CCR3基因呈过表达状态。上述数据表明，CCR3基因过表达与唐氏综合征患者的表型存在关联。