HERVs expression in Autism Spectrum Disorders.

<h4>Background</h4>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...

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Autores principales: 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
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Publicado: Public Library of Science (PLoS) 2012
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spelling oai:doaj.org-article:c2c2a92066e54a32a744daeb4ab894ec2021-11-18T08:08:53ZHERVs expression in Autism Spectrum Disorders.1932-620310.1371/journal.pone.0048831https://doaj.org/article/c2c2a92066e54a32a744daeb4ab894ec2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23155411/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Conclusions</h4>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.Emanuela BalestrieriCarla ArpinoClaudia MatteucciRoberta SorrentinoFrancesca PicaRiccardo AlessandrelliAntonella ConiglioPaolo CuratoloGiovanni RezzaFabio MacciardiEnrico GaraciSimona GaudiPaola Sinibaldi-VallebonaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 11, p e48831 (2012)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
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
HERVs expression in Autism Spectrum Disorders.
description <h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Conclusions</h4>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.
format article
author 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
author_facet 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
author_sort Emanuela Balestrieri
title HERVs expression in Autism Spectrum Disorders.
title_short HERVs expression in Autism Spectrum Disorders.
title_full HERVs expression in Autism Spectrum Disorders.
title_fullStr HERVs expression in Autism Spectrum Disorders.
title_full_unstemmed HERVs expression in Autism Spectrum Disorders.
title_sort hervs expression in autism spectrum disorders.
publisher Public Library of Science (PLoS)
publishDate 2012
url https://doaj.org/article/c2c2a92066e54a32a744daeb4ab894ec
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