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Updated: Jul 14, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
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Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

[Infantile encephalopathy associated with the MELAS A3243G mutation. Case report]

José Guevara-Campos1, Lucía Gonzalez-Guevara, Yulimar Parada

  • 1Servicio Pediatriá, Hospital Felipe Guevara Rojas, El Tigre, estado Anzoátegui, Venezuela. joguevara90@hotmail.com

Investigacion Clinica
|June 30, 2007
PubMed

Insights

Mitochondrial encephalopathies, like MELAS, stem from mitochondrial DNA (mtDNA) alterations. Early diagnosis in infants with specific symptoms, including lactic acidosis, is crucial for timely intervention and improved outcomes.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Mitochondrial encephalopathies are a class of diseases caused by mitochondrial DNA (mtDNA) mutations.
  • The MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) phenotype is frequently associated with the A3243G mtDNA mutation.
  • MERRF (myoclonic epilepsy with ragged red fibers) is linked to specific tRNA Lys mutations (A8344G, A8566G).

Observation:

  • A 7-month-old female infant presented with early signs of encephalopathy, including convulsions, psychomotor developmental delay, and lactic acidosis.
  • Electroencephalogram (EEG) findings were consistent with an encephalopathic process.
  • The patient was found to have the A3243G mtDNA mutation.

Findings:

  • Treatment with ACTH for one month resulted in clinical and electroencephalographic improvements.
  • Current management includes B-vitamins, L-Carnitine, and urinary alkalizing agents.
  • The A3243G mutation was identified as the likely cause of the infant's encephalopathy.

Implications:

  • Infants presenting with unexplained convulsions, developmental delay, lactic acidosis, and abnormal EEG patterns should be evaluated for mitochondrial disease.
  • Early detection of mtDNA mutations allows for targeted therapies and management strategies.
  • This case highlights the importance of mtDNA analysis in the differential diagnosis of pediatric encephalopathies.

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