Autism Spectrum Disorder is a severe neurodevelopmental disorder that involves social interaction defects, impairment of non-verbal and verbal interactions, and limited interests along with stereotypic activities. Its incidence has been increasing rapidly in recent decades. Despite numerous attempts to understand the pathophysiology of ASD, its exact etiology is still unclear. Recent data shows the role of accurate myelination and translational regulation in ASD's pathogenesis. In this study, we assessed Ermin (ERMN) and Listerin E3 Ubiquitin Protein Ligase 1 (LTN1) genes expression in Iranian ASD patients and age- and gender-matched healthy subjects' peripheral blood using quantitative real-time PCR to recognize any probable dysregulation in the expression of these genes and propose this disorder's mechanisms. Analysis of the expression demonstrated a significant ERMN downregulation in total ASD patients compared to the healthy individuals (posterior beta = -0.794, adjusted P-value = 0.025). LTN1 expression was suggestively higher in ASD patients in comparison with the corresponding control individuals. Considering the gender of study participants, the analysis showed that the mentioned genes' different expression levels were significant only in male subjects. Besides, a significant correlation was found between expression of the mentioned genes (r = -0.49, P < 0.0001). The present study provides further supports for the contribution of ERMN and LTN1 in ASD's pathogenesis.

中文翻译：

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自闭症患者 Ermin (ERMN) 和 Listerin E3 泛素蛋白连接酶 1 (LTN1) 基因的表达分析


自闭症谱系障碍是一种严重的神经发育障碍，涉及社交互动缺陷、非语言和语言互动障碍、兴趣有限以及刻板活动。近几十年来其发病率迅速增加。尽管人们多次尝试了解 ASD 的病理生理学，但其确切病因仍不清楚。最近的数据显示了精确的髓鞘形成和翻译调节在 ASD 发病机制中的作用。在这项研究中，我们使用定量实时 PCR 评估了伊朗 ASD 患者以及年龄和性别匹配的健康受试者外周血中的 Ermin (ERMN) 和李施德林 E3 泛素蛋白连接酶 1 (LTN1) 基因表达，以识别任何可能的失调。这些基因的表达并提出这种疾病的机制。表达分析表明，与健康个体相比，自闭症谱系障碍患者中的​​ ERMN 显着下调（后β = -0.794，调整后的 P 值 = 0.025）。与相应的对照个体相比，ASD 患者的 LTN1 表达水平更高。考虑到研究参与者的性别，分析表明上述基因的不同表达水平仅在男性受试者中显着。此外，上述基因的表达之间发现显着相关性（r = -0.49，P < 0.0001）。本研究为 ERMN 和 LTN1 在 ASD 发病机制中的贡献提供了进一步的支持。