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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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Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes

Stacey H K Tay1, Douglas R Nordli, Eduardo Bonilla

  • 1Department of Pediatrics, National University of Singapore, Singapore.

Archives of Neurology
|February 16, 2006
PubMed
Abstract

Insights

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can cause severe vasculopathy. A patient with the A3243G/MELAS mutation experienced aortic rupture due to high mutation load in blood vessels.

Area of Science:

  • Genetics
  • Vascular Biology
  • Mitochondrial Diseases

Background:

  • Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is associated with microangiopathy in the brain and muscles.
  • The common A3243G point mutation is a frequent cause of MELAS.

Observation:

  • A patient with the A3243G/MELAS mutation presented with aortic rupture.
  • The patient's mother died from a large vessel rupture, suggesting a potential familial link.
  • Histological examination of the aorta revealed smooth muscle disarray and reduced cytochrome-C oxidase I staining in endothelial and smooth muscle cells.

Findings:

  • High mutation load (85.3%) of the A3243G MELAS mutation was detected in the patient's blood vessels.
  • Mutation load in blood was significantly lower (40.5%) compared to blood vessels.
  • Immunohistochemistry confirmed decreased mitochondrial DNA-encoded cytochrome-C oxidase I subunit in aortic cells and vasa vasorum.

Implications:

  • Severe vasculopathy in MELAS patients may be directly linked to a high mutation load within blood vessels.
  • Aortic rupture is an uncommon but significant complication of MELAS, particularly during surgical procedures.
  • This case highlights the importance of considering vascular complications in MELAS patients, even in the absence of typical neurological symptoms.

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