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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

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Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation--a 5

M Schinwelski1, B Kierdaszuk, J Dulski

  • 1Department of Neurological and Psychiatric Nursing, Medical University of Gdansk, Gdansk, Poland, szyna777@gmail.com.

Metabolic Brain Disease
|January 1, 2015
PubMed

Insights

Mitochondrial complex I mutations cause encephalomyopathies. A rare 13042G>A mutation showed changing symptoms and a significant response to levetiracetam treatment.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Mitochondrial complex I (NADH dehydrogenase) mutations are linked to mitochondrial encephalomyopathies.
  • These genetic defects disrupt the electron transport chain, impacting cellular energy production.
  • Encephalomyopathies present with diverse neurological and systemic symptoms.

Observation:

  • A patient presented with a rare de novo 13042G>A mutation in a NADH dehydrogenase subunit.
  • The patient exhibited evolving clinical symptomatology over time.
  • A notable and sustained positive response to levetiracetam was observed.

Findings:

  • The 13042G>A mutation represents a rare genetic cause of mitochondrial encephalomyopathy.
  • Phenotypic expression associated with this mutation can be variable and change over time.
  • Levetiracetam demonstrated efficacy in managing the patient's condition.

Implications:

  • This case highlights the importance of genetic testing in diagnosing complex neurological disorders.
  • Understanding genotype-phenotype correlations is crucial for predicting disease progression.
  • The therapeutic potential of levetiracetam in specific mitochondrial disorders warrants further investigation.

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