Cuchillo-Ibáñez Inmaculada, Andreo-Lillo Patricia, Pastor-Ferrándiz Lorena, Carratalá-Marco Francisco, Sáez-Valero Javier
Instituto de Neurociencias de Alicante, Department of Molecular Neurobiology and Neuropathology, Universidad Miguel Hernández-CSIC, Sant Joan d'Alacant, Spain.
Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Sant Joan d'Alacant, Spain.
Front Psychiatry. 2020 Mar 30;11:242. doi: 10.3389/fpsyt.2020.00242. eCollection 2020.
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders involving age-dependent gene dysregulation. Reelin is a glycoprotein that varies its expression throughout lifetime and controls cortical patterning and synaptogenesis. Brain and plasma reelin levels have been reported to be low in adults with autism; as well as in children with autism, but only when compared to control adults. Therefore, reelin expression levels in children with autism are unclear. For this reason, we compared plasma reelin levels in children with autism and children without autism (non-ASD) of similar ages to evaluate reelin expression in ASD during childhood. Plasma samples from 19 non-ASD (8.9 ± 0.8 years) and 40 children with autism (7.5 ± 0.5 years) were analyzed. We found that 50% of the children with autism displayed similar plasma reelin levels to the non-ASD group. However, the remaining 50% expressed more than 30 times more reelin compared to non-ASD levels. We also show that male children with autism displayed significantly higher reelin levels than females. The clinical presentation of this subgroup could not be distinguished from that of children with autism. Epilepsy or attention-deficit/hyperactivity disorder (ADHD) was not associated to reelin levels. We conclude that the high levels of plasma reelin might be an important hallmark in a subset of children with autism, previously unnoticed. As we could not find any correlation between reelin levels and ASD clinical presentations, our results may indicate transient reelin increases in the plasma or the characterization of a group of ASD individuals with a different pathophysiology.
自闭症谱系障碍(ASD)是一组涉及年龄依赖性基因失调的神经发育障碍。Reelin是一种糖蛋白,其表达在一生中会发生变化,并控制皮质模式形成和突触发生。据报道,自闭症成年患者以及自闭症儿童的大脑和血浆中Reelin水平较低,但这只是与对照成年人相比而言。因此,自闭症儿童中Reelin的表达水平尚不清楚。出于这个原因,我们比较了自闭症儿童和年龄相仿的非自闭症儿童(非ASD)的血浆Reelin水平,以评估儿童期ASD中Reelin的表达情况。分析了19名非ASD儿童(8.9±0.8岁)和40名自闭症儿童(7.5±0.5岁)的血浆样本。我们发现,50%的自闭症儿童的血浆Reelin水平与非ASD组相似。然而,其余50%的自闭症儿童表达的Reelin比非ASD水平高出30倍以上。我们还表明,患有自闭症的男性儿童的Reelin水平明显高于女性。该亚组的临床表现与自闭症儿童无法区分。癫痫或注意力缺陷多动障碍(ADHD)与Reelin水平无关。我们得出结论,血浆中高水平的Reelin可能是一部分自闭症儿童中一个以前未被注意到的重要标志。由于我们未发现Reelin水平与ASD临床表现之间存在任何相关性,我们的结果可能表明血浆中Reelin短暂升高,或者是一组具有不同病理生理学的ASD个体的特征。