Zhang Haiqing, Gu Yuhang, He Wenxiang, Kuo Fengyi, Zhang Yiran, Wang Duan, He Li, Yang Ying, Wang Hepeng, Chen Yanni
Department of Child Healthcare, Xi'an Children's Hospital, Xi'an, China.
Department of Pediatrics, Ankang Maternal and Child Health Hospital, Ankang, China.
Front Psychiatry. 2022 Jun 9;13:870374. doi: 10.3389/fpsyt.2022.870374. eCollection 2022.
Abnormal alterations in enzymes functioned in sialic acid modifications may be associated with ASD. In order to study the differences in peripheral blood sialidase (neuraminidase 1; NEU1) mRNA expression between autism spectrum disorder (ASD) children and healthy control, and to examine the correlation between NEU1 mRNA expression and the main behavioral phenotypes in children with ASD, we performed RT-qPCR to measure NEU1 mRNA expression in peripheral blood of 42 children with ASD and 42 healthy controls. In addition, we used the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) to measure and evaluate the behavioral phenotypes of children with ASD. Our results showed that NEU1 mRNA in the ASD group was significantly higher than in the control group ( < 0.0001). In addition, the ADOS-2 diagnostic scores of 42 children with ASD were correlated with their NEU1 mRNA expression results ( = 0.344, = 0.0257). Moreover, in general, NEU1 mRNA expression was also positively correlated with the Social Affect (SA) of ADOS-2 ( = 0.3598, = 0.0193) but not with the Restricted and Repetitive Behavior (RRB) ( = 0.15, = 0.3432). Our results indicated that sialidase NEU1 mRNA was significantly increased in children with ASD, and its expression was correlated with the SA of children with ASD, which suggested that sialidase NEU1 may affect the SA of ASD. Our data highlighted the potential of NEU1 expression change may play an important role in ASD disease and lay the foundation for further studies on the relationship between NEU1 and ASD.
在唾液酸修饰过程中发挥作用的酶的异常改变可能与自闭症谱系障碍（ASD）有关。为了研究自闭症谱系障碍（ASD）儿童与健康对照者外周血唾液酸酶（神经氨酸酶1；NEU1）mRNA表达的差异，并检测NEU1 mRNA表达与ASD儿童主要行为表型之间的相关性，我们进行了逆转录定量聚合酶链反应（RT-qPCR），以测定42例ASD儿童和42例健康对照者外周血中NEU1 mRNA的表达。此外，我们使用《自闭症诊断观察量表第二版》（ADOS-2）来测量和评估ASD儿童的行为表型。我们的结果显示，ASD组的NEU1 mRNA显著高于对照组（<0.0001）。此外，42例ASD儿童的ADOS-2诊断评分与他们的NEU1 mRNA表达结果相关（r = 0.344，P = 0.0257）。此外，总体而言，NEU1 mRNA表达也与ADOS-2的社会情感（SA）呈正相关（r = 0.3598，P = 0.0193），但与局限重复行为（RRB）无相关性（r = 0.15，P = 0.3432）。我们的结果表明，ASD儿童唾液酸酶NEU1 mRNA显著升高，其表达与ASD儿童的SA相关，这表明唾液酸酶NEU1可能影响ASD的SA。我们的数据突出了NEU1表达变化在ASD疾病中可能发挥重要作用的潜力，并为进一步研究NEU1与ASD之间的关系奠定了基础。
