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Mitochondrial DNA abnormalities and autistic spectrum disorders.

Roser Pons1, Antoni L Andreu, Nicoletta Checcarelli

  • 1Departments of Neurology, Pediatrics, and Psychiatry, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.

The Journal of Pediatrics
|January 15, 2004
PubMed
Summary

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Autistic features can stem from mitochondrial DNA (mtDNA) defects, specifically the A3243G mutation or mtDNA depletion. These findings highlight the importance of considering mitochondrial dysfunction in affected individuals.

Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • Autism spectrum disorders (ASDs) are complex neurodevelopmental conditions.
  • Mitochondrial dysfunction is increasingly recognized as a potential contributing factor in various neurological disorders.

Observation:

  • Five patients with ASDs and family histories of mitochondrial disease were evaluated.
  • Mitochondrial DNA (mtDNA) analysis and magnetic resonance spectroscopy were performed.

Findings:

  • Two patients carried the A3243G mtDNA mutation; in two others, this mutation was maternally inherited.
  • One patient exhibited significant skeletal muscle mtDNA depletion (72%).
  • ASD features, with or without additional neurological symptoms, were observed across the patient cohort.

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Implications:

  • The A3243G mtDNA mutation and mtDNA depletion can manifest as ASDs, with or without other neurological signs.
  • Mitochondrial dysfunction should be investigated in patients presenting with autistic features, especially when accompanied by neurological findings or maternal inheritance patterns.