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Related Experiment Videos

Developmental regression and mitochondrial dysfunction in a child with autism.

Jon S Poling1, Richard E Frye, John Shoffner

  • 1Department of Neurology and Neurosurgery, Johns Hopkins Hospital, Baltimore, MD, USA.

Journal of Child Neurology
|March 29, 2006
PubMed
Summary

Autism spectrum disorder may involve mitochondrial dysfunction. This study found common abnormalities in routine lab tests for autistic children, suggesting prevalent oxidative phosphorylation defects requiring metabolic evaluation.

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Area of Science:

  • Biochemistry
  • Neuroscience
  • Genetics

Background:

  • Autism spectrum disorder (ASD) is a complex neurodevelopmental condition.
  • Mitochondrial dysfunction has been increasingly implicated in ASD pathogenesis.
  • Oxidative phosphorylation (OXPHOS) disorders are a potential, yet under-recognized, contributing factor.

Observation:

  • A case study identified developmental regression and OXPHOS disorder in a young girl with autism.
  • Muscle biopsy revealed specific abnormalities including reduced cytochrome c oxidase activity.
  • Retrospective analysis of 159 autistic patients showed elevated aspartate aminotransferase and creatine kinase levels compared to controls.

Findings:

  • Significant elevations in aspartate aminotransferase (38% vs 15%) and creatine kinase (47%) were observed in autistic individuals.

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  • Marked reductions in enzymatic activities for OXPHOS complexes I and III were noted.
  • Complex IV (cytochrome c oxidase) activity was significantly diminished in the case study.

    • Implications:

    • Routine laboratory tests may indicate underlying metabolic dysfunction in autistic patients.
    • These findings suggest that OXPHOS defects may be more prevalent in autism spectrum disorder.
    • Further metabolic screening and evaluation are warranted for individuals with ASD.