Abstract
BackgroundAutistic Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder, resulting from complex interactions among genetic, genomic and environmental factors. Here we have studied the expression of Human Endogenous Retroviruses (HERVs), non-coding DNA elements with potential regulatory functions, and have tested their possible implication in autism.MethodsThe presence of retroviral mRNAs from four HERV families (E, H, K and W), widely implicated in complex diseases, was evaluated in peripheral blood mononuclear cells (PBMCs) from ASD patients and healthy controls (HCs) by qualitative RT-PCR. We also analyzed the expression of the env sequence from HERV-H, HERV-W and HERV-K families in PBMCs at the time of sampling and after stimulation in culture, in both ASD and HC groups, by quantitative Real-time PCR. Differences between groups were evaluated using statistical methods.ResultsThe percentage of HERV-H and HERV-W positive samples was higher among ASD patients compared to HCs, while HERV-K was similarly represented and HERV-E virtually absent in both groups. The quantitative evaluation shows that HERV-H and HERV-W are differentially expressed in the two groups, with HERV-H being more abundantly expressed and, conversely, HERV-W, having lower abundance, in PBMCs from ASDs compared to healthy controls. PMBCs from ASDs also showed an increased potential to up-regulate HERV-H expression upon stimulation in culture, unlike HCs. Furthermore we report a negative correlation between expression levels of HERV-H and age among ASD patients and a statistically significant higher expression in ASD patients with Severe score in Communication and Motor Psychoeducational Profile-3.ConclusionsSpecific HERV families have a distinctive expression profile in ASD patients compared to HCs. We propose that HERV-H expression be explored in larger samples of individuals with autism spectrum in order to determine its utility as a novel biological trait of this complex disorder.
Highlights
Autism spectrum disorder (ASDs) is a complex neurodevelopmental disorder characterized by varying levels of impairment in social interaction and communication as well as stereotypes and rigid patterns of behaviour [1]
We first analysed the expression of four Human Endogenous Retroviruses (HERVs) families (H, W, K and E), selected on the basis of their frequent association with complex human diseases, in fresh (T0) and in culture stimulated (T72) peripheral blood mononuclear cells (PBMCs) from both ASD and healthy controls (HCs) groups by qualitative RTPCR
The percentage of HERV-H-expressing individuals was higher among ASD cases, compared to controls, at T0
Summary
Autism spectrum disorder (ASDs) is a complex neurodevelopmental disorder characterized by varying levels of impairment in social interaction and communication as well as stereotypes and rigid patterns of behaviour [1]. The prevalence rates of ASD have been increasing worldwide, the most recent prevalence studies indicating that they are present in 6 per 1000 children. The ASD etiology is still unknown, but data suggest a likely multi-factorial origin with a strong genetic basis [2]. Twin studies have shown an inheritance of 92% [3]. Rare genetic disorders and chromosomal abnormalities are thought to occur in only 10% of ASD cases, approximately. Autistic Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder, resulting from complex interactions among genetic, genomic and environmental factors. We have studied the expression of Human. Endogenous Retroviruses (HERVs), non-coding DNA elements with potential regulatory functions, and have tested their possible implication in autism
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