[The maternal effect in infantile autism: elevated DNA damage degree in patients and their mothers]

L N Porokhovnik1, S V Kostyuk1, E S Ershova1

  • 1Research Centre of Medical Genetics, Moscow, Russia.

Biomeditsinskaia Khimiia
|August 27, 2016
PubMed

Insights

Oxidative stress may contribute to infantile autism through DNA damage. Mentally healthy mothers of autistic children show elevated DNA damage, suggesting a "maternal effect" in autism development.

Area of Science:

  • Neurodevelopmental Disorders
  • Genetics and Epigenetics
  • Environmental Health

Background:

  • Infantile autism is a developmental disorder affecting communication, cognition, and behavior, with unclear causes but known hereditary and environmental influences.
  • Oxidative stress is implicated in autism pathogenesis, potentially causing genotoxic effects like DNA strand breaks.
  • The "maternal effect" highlights the mother's physiological state during pregnancy as a potential environmental factor in fetal development.

Purpose of the Study:

  • To investigate DNA damage levels in children with infantile autism and their mothers.
  • To explore the role of oxidative stress and genotoxicity in the etiology of autism through maternal factors.

Main Methods:

  • Utilized the DNA comet assay to evaluate DNA damage in autistic children and their mothers.
  • Assessed comet tail moment and DNA percentage in the tail as indicators of DNA damage.
  • Compared DNA damage levels between autistic children, healthy children, mothers of autistic children, and healthy women.

Main Results:

  • Autistic children exhibited significantly higher DNA damage than healthy controls.
  • Mothers of autistic children showed elevated DNA damage, comparable to their autistic children.
  • Healthy mothers of autistic children displayed higher DNA damage than control women without autistic children.

Conclusions:

  • Genotoxic factors present in healthy mothers may influence fetal development, contributing to autism via the maternal effect.
  • The findings suggest an environmental maternal contribution to autism pathogenesis, linked to oxidative stress and DNA damage.
  • Further research is warranted to elucidate the specific mechanisms of maternal genotoxicity in autism.

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