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Published on: September 6, 2024

HERVs expression in Autism Spectrum Disorders.

Emanuela Balestrieri1, Carla Arpino, Claudia Matteucci

  • 1Department of Experimental Medicine and Biochemical Sciences, University of Rome "Tor Vergata", Rome, Italy.

Plos One
|November 17, 2012
PubMed
Summary
This summary is machine-generated.

Human Endogenous Retroviruses (HERVs) show distinct expression patterns in Autistic Spectrum Disorder (ASD). HERV-H and HERV-W levels differ between ASD patients and healthy controls, suggesting a potential biological marker for autism.

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Area of Science:

  • Neuroscience
  • Genetics
  • Immunology

Background:

  • Autistic Spectrum Disorder (ASD) is a complex neurodevelopmental disorder influenced by genetic and environmental factors.
  • Human Endogenous Retroviruses (HERVs) are non-coding DNA elements with potential regulatory roles.
  • This study investigates the implication of HERV expression in autism.

Purpose of the Study:

  • To evaluate the expression of specific Human Endogenous Retrovirus (HERV) families in individuals with Autistic Spectrum Disorder (ASD).
  • To determine if HERV expression profiles differ between ASD patients and healthy controls (HCs).
  • To explore the potential of HERVs as a biological trait for ASD.

Main Methods:

  • Qualitative and quantitative Real-time PCR were used to assess HERV mRNA expression in peripheral blood mononuclear cells (PBMCs).
  • Four HERV families (E, H, K, W) were analyzed in ASD patients and HCs.
  • PBMC samples were analyzed at baseline and after in vitro stimulation.

Main Results:

  • HERV-H and HERV-W positive samples were more frequent in ASD patients.
  • HERV-H was more abundant and HERV-W less abundant in ASD patients' PBMCs compared to HCs.
  • ASD patients' PBMCs showed increased HERV-H upregulation potential upon stimulation, with a negative correlation to age and higher expression in severe ASD cases.

Conclusions:

  • Specific HERV families exhibit distinct expression profiles in individuals with ASD.
  • HERV-H expression warrants further investigation in larger ASD cohorts.
  • HERV-H may serve as a novel biological trait for diagnosing and understanding autism spectrum disorder.