TY - JOUR T1 - HERVs Expression in Autism Spectrum Disorders A1 - Balestrieri, Emanuela A1 - Arpino, Carla A1 - Matteucci, Claudia A1 - Sorrentino, Roberta A1 - Pica, Francesca A1 - Alessandrelli, Riccardo A1 - Coniglio, Antonella A1 - Curatolo, Paolo A1 - Rezza, Giovanni A1 - Macciardi, Fabio A1 - Garaci, Enrico A1 - Gaudi, Simona A1 - Sinibaldi-Vallebona, Paola Y1 - 2012/11/14 N2 - Background Autistic 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. Methods The 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. Results The 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. Conclusions Specific 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. JF - PLOS ONE JA - PLOS ONE VL - 7 IS - 11 UR - https://doi.org/10.1371/journal.pone.0048831 SP - e48831 EP - PB - Public Library of Science M3 - doi:10.1371/journal.pone.0048831 ER -