HERVs Expression in Autism Spectrum Disorders

Emanuela Balestrieri, Carla Arpino, Claudia Matteucci, Roberta Sorrentino, Francesca Pica, Riccardo Alessandrelli, Antonella Coniglio, Paolo Curatolo, Giovanni Rezza, Fabio Macciardi, Enrico Garaci, Simona Gaudi, Paola Sinibaldi-Vallebona

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Article numbere48831
JournalPLoS One
Volume7
Issue number11
DOIs
Publication statusPublished - Nov 14 2012

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Retroviridae
Endogenous Retroviruses
Autistic Disorder
Blood
mononuclear leukocytes
Blood Cells
Autism Spectrum Disorder
autism
Statistical methods
Sampling
Messenger RNA
DNA
Communication

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Balestrieri, E., Arpino, C., Matteucci, C., Sorrentino, R., Pica, F., Alessandrelli, R., ... Sinibaldi-Vallebona, P. (2012). HERVs Expression in Autism Spectrum Disorders. PLoS One, 7(11), [e48831]. https://doi.org/10.1371/journal.pone.0048831

HERVs Expression in Autism Spectrum Disorders. / Balestrieri, Emanuela; Arpino, Carla; Matteucci, Claudia; Sorrentino, Roberta; Pica, Francesca; Alessandrelli, Riccardo; Coniglio, Antonella; Curatolo, Paolo; Rezza, Giovanni; Macciardi, Fabio; Garaci, Enrico; Gaudi, Simona; Sinibaldi-Vallebona, Paola.

In: PLoS One, Vol. 7, No. 11, e48831, 14.11.2012.

Research output: Contribution to journalArticle

Balestrieri, E, Arpino, C, Matteucci, C, Sorrentino, R, Pica, F, Alessandrelli, R, Coniglio, A, Curatolo, P, Rezza, G, Macciardi, F, Garaci, E, Gaudi, S & Sinibaldi-Vallebona, P 2012, 'HERVs Expression in Autism Spectrum Disorders', PLoS One, vol. 7, no. 11, e48831. https://doi.org/10.1371/journal.pone.0048831
Balestrieri E, Arpino C, Matteucci C, Sorrentino R, Pica F, Alessandrelli R et al. HERVs Expression in Autism Spectrum Disorders. PLoS One. 2012 Nov 14;7(11). e48831. https://doi.org/10.1371/journal.pone.0048831
Balestrieri, Emanuela ; Arpino, Carla ; Matteucci, Claudia ; Sorrentino, Roberta ; Pica, Francesca ; Alessandrelli, Riccardo ; Coniglio, Antonella ; Curatolo, Paolo ; Rezza, Giovanni ; Macciardi, Fabio ; Garaci, Enrico ; Gaudi, Simona ; Sinibaldi-Vallebona, Paola. / HERVs Expression in Autism Spectrum Disorders. In: PLoS One. 2012 ; Vol. 7, No. 11.
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