Abstract

Autism is a complex neurodevelopmental disorder. However, its etiology is still unknown. MicroRNAs (miRNAs) are key post-transcriptional regulators. They play an important role in neurodevelopment and brain functions and may be involved in the pathogenesis of autism. Previous studies indicated altered expression of miRNAs in patients with autism. However, the findings were not consistent, and further explorations were needed. This study aimed to investigate whether miRNAs were dysregulated in autism. We examined the expression of 30 brain-specific autism-associated miRNAs in 110 patients with autism and 113 controls in the Han Chinese population using quantitative reverse transcription–polymerase chain reaction. The results demonstrated that 10 miRNAs (hsa-miR-191-5p, hsa-miR-151a-3p, hsa-miR-139-5p, hsa-miR-181a-5p, hsa-miR-432-5p, hsa-miR-181b-5p, hsa-miR-195-5p, hsa-miR-328-3p, hsa-miR-106a-5p, and hsa-miR-484) were significantly differentially expressed (false discovery rate <0.05). All of them were up-regulated in patients with autism compared with controls. The targets of these miRNAs were enriched for genes and pathways related to neurodevelopment, brain functions and autism. These findings suggested the participation of these 10 miRNAs in the pathogenesis of autism in the Han Chinese population.

Highlights

  • Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders

  • 106 DE-miRNAs were detected with Quantitative reverse transcription–polymerase chain reaction (qRT-PCR)

  • This study investigated the altered expression of 30 brainspecific ASD-associated miRNAs in a Han Chinese cohort

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Summary

Introduction

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders. The core symptoms of ASD include significant deficits in social communication and interaction, repetitive behaviors, and restricted interests that commonly appear within the first 3 years of life and last throughout life. Autism affects about 1–2% of the world population with a higher incidence in boys than in girls (Maenner et al, 2020). In China, the prevalence of autism was estimated as 0.7% among 6- to 12year-old children (Zhou et al, 2020). Noncoding RNAs (ncRNAs), microRNAs (miRNAs), were implicated in the central nervous system (CNS) functions and likely influenced the development of autism (Fabian and Sonenberg, 2012; Treiber et al, 2019). The contributions of these ncRNAs in autism are not completely understood yet

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