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La disfunción mitocondrial en el autismo.

Cecilia Giulivi1, Yi-Fan Zhang, Alicja Omanska-Klusek

  • 1University of California, School of Veterinary Medicine, Department of Molecular Biosciences, One Shields Avenue, 1120 Haring Hall, Davis, CA 95616, USA. cgiulivi@ucdavis.edu

JAMA
|December 2, 2010
PubMed
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Este resumen es generado por máquina.

Los niños con autismo muestran disfunción mitocondrial, incluyendo menor producción de energía y ADN mitocondrial anormal (ADNmt). Este estudio exploratorio sugiere un vínculo entre estos defectos celulares y el autismo en niños pequeños.

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Área de la Ciencia:

  • La bioquímica es la bioquímica.
  • Genética La genética.
  • La neurociencia es la neurociencia.

Sus antecedentes:

  • La disfunción mitocondrial puede afectar a los procesos intensivos en energía como el neurodesarrollo, contribuyendo potencialmente al autismo.
  • Investigaciones anteriores no han estudiado extensamente la disfunción mitocondrial y las anomalías del ADN mitocondrial (ADNm) en niños con autismo.

Objetivo del estudio:

  • Para investigar los defectos mitocondriales en niños diagnosticados con trastornos del espectro autista.
  • Evaluar la función mitocondrial y la integridad del ADNmt en una cohorte de niños pequeños con autismo.

Principales métodos:

  • Un estudio observacional de casos y controles en el que participaron 10 niños con autismo y 10 controles de la misma edad.
  • Análisis de los linfocitos para la capacidad de fosforilación oxidativa, el número de copias de ADNmt, las deleciones de ADNmt, la producción de peróxido de hidrógeno, el lactato plasmático y los niveles de piruvato.

Principales resultados:

  • Los niños con autismo mostraron una actividad de NADH oxidasa y una actividad de piruvato deshidrogenasa significativamente más bajas en comparación con los controles.
  • Se observaron niveles elevados de piruvato en plasma y un aumento de la producción de peróxido de hidrógeno mitocondrial en niños con autismo.
  • La sobre replicación del ADN mitocondrial (ADNmt) se encontró en el 50% de los niños con autismo, y las deleciones de ADNmt estaban presentes en el 20%.

Conclusiones:

  • Este estudio exploratorio indica que los niños con autismo son más propensos a la disfunción mitocondrial.
  • Los hallazgos sugieren una mayor probabilidad de sobre-replicación y deleciones de ADNmt en niños con autismo en comparación con niños en desarrollo típico.