Modulation of human endogenous retroviruses and cytokines expression in peripheral blood mononuclear cells from autistic children and their parents.


Journal

Retrovirology
ISSN: 1742-4690
Titre abrégé: Retrovirology
Pays: England
ID NLM: 101216893

Informations de publication

Date de publication:
30 11 2022
Historique:
received: 16 02 2022
accepted: 09 05 2022
entrez: 1 12 2022
pubmed: 2 12 2022
medline: 3 12 2022
Statut: epublish

Résumé

Putative pathogenic effects mediated by human endogenous retroviruses (HERVs) in neurological and psychiatric disorders in humans have been extensively described. HERVs may alter the development of the brain by means of several mechanisms, including modulation of gene expression, alteration of DNA stability, and activation of immune system. We recently demonstrated that autistic children and their mothers share high expression levels of some HERVs and cytokines in peripheral blood mononuclear cells (PBMCs) ex vivo, suggesting a close mother-child association in Autism Spectrum Disorder (ASD). In the present study, PBMCs from autistic children and their parents were exposed to stimulating factors (Interleukin-2/Phytohaemagglutinin) or drugs, as Valproic acid and Efavirenz. The results show that HERVs and cytokines expression can be modulated in vitro by different stimuli in PBMCs from autistic children and their mothers, while no significant changes were found in PBMCs ASD fathers or in controls individuals. In particular, in vitro exposure to interleukin-2/Phytohaemagglutinin or valproic acid induces the expression of several HERVs and cytokines while Efavirenz inhibits them. Herein we show that autistic children and their mothers share an intrinsic responsiveness to in vitro microenvironmental changes in expressing HERVs and pro-inflammatory cytokines. Remarkably, the antiretroviral drug Efavirenz restores the expression of specific HERV families to values similar to those of the controls, also reducing the expression of proinflammatory cytokines but keeping the regulatory ones high. Our findings open new perspectives to study the role of HERVs in the biological mechanisms underlying Autism.

Sections du résumé

BACKGROUND
Putative pathogenic effects mediated by human endogenous retroviruses (HERVs) in neurological and psychiatric disorders in humans have been extensively described. HERVs may alter the development of the brain by means of several mechanisms, including modulation of gene expression, alteration of DNA stability, and activation of immune system. We recently demonstrated that autistic children and their mothers share high expression levels of some HERVs and cytokines in peripheral blood mononuclear cells (PBMCs) ex vivo, suggesting a close mother-child association in Autism Spectrum Disorder (ASD).
RESULTS
In the present study, PBMCs from autistic children and their parents were exposed to stimulating factors (Interleukin-2/Phytohaemagglutinin) or drugs, as Valproic acid and Efavirenz. The results show that HERVs and cytokines expression can be modulated in vitro by different stimuli in PBMCs from autistic children and their mothers, while no significant changes were found in PBMCs ASD fathers or in controls individuals. In particular, in vitro exposure to interleukin-2/Phytohaemagglutinin or valproic acid induces the expression of several HERVs and cytokines while Efavirenz inhibits them.
CONCLUSION
Herein we show that autistic children and their mothers share an intrinsic responsiveness to in vitro microenvironmental changes in expressing HERVs and pro-inflammatory cytokines. Remarkably, the antiretroviral drug Efavirenz restores the expression of specific HERV families to values similar to those of the controls, also reducing the expression of proinflammatory cytokines but keeping the regulatory ones high. Our findings open new perspectives to study the role of HERVs in the biological mechanisms underlying Autism.

Identifiants

pubmed: 36451209
doi: 10.1186/s12977-022-00603-6
pii: 10.1186/s12977-022-00603-6
pmc: PMC9709758
doi:

Substances chimiques

efavirenz JE6H2O27P8
Cytokines 0
Interleukin-2 0
Phytohemagglutinins 0
Valproic Acid 614OI1Z5WI

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

26

Informations de copyright

© 2022. The Author(s).

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Auteurs

Chiara Cipriani (C)

Department of Experimental Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.

Martina Giudice (M)

Department of Experimental Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.

Vita Petrone (V)

Department of Experimental Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.

Marialaura Fanelli (M)

Department of Experimental Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.

Antonella Minutolo (A)

Department of Experimental Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.

Martino T Miele (MT)

Department of Experimental Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.

Nicola Toschi (N)

Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133, Rome, Italy.
Martinos Center for Biomedical Imaging and Harvard Medical School, Boston, USA.

Christian Maracchioni (C)

Department of Experimental Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.

Martina Siracusano (M)

Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133, Rome, Italy.

Arianna Benvenuto (A)

Child Neurology and Psychiatry Unit, System Medicine Department, Tor Vergata University Hospital of Rome, 00133, Rome, Italy.

Antonella Coniglio (A)

Child Neurology and Psychiatry Unit, System Medicine Department, Tor Vergata University Hospital of Rome, 00133, Rome, Italy.

Paolo Curatolo (P)

Child Neurology and Psychiatry Unit, System Medicine Department, Tor Vergata University Hospital of Rome, 00133, Rome, Italy.

Luigi Mazzone (L)

Child Neurology and Psychiatry Unit, System Medicine Department, Tor Vergata University Hospital of Rome, 00133, Rome, Italy.

Grelli Sandro (G)

Department of Experimental Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.
Virology Unit, Policlinic of Tor Vergata, 00133, Rome, Italy.

Enrico Garaci (E)

University San Raffaele, Rome, Italy.
IRCCS San Raffaele Pisana, 00133, Rome, Italy.

Paola Sinibaldi-Vallebona (P)

Department of Experimental Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.
Institute of Translational Pharmacology, National Research Council, 00133, Rome, Italy.

Claudia Matteucci (C)

Department of Experimental Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.

Emanuela Balestrieri (E)

Department of Experimental Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy. balestrieri@med.uniroma2.it.

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Classifications MeSH