Disruption of endothelial tight junctions in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)

Neuropediatrics. 2010 Aug;41(2):72-4. doi: 10.1055/s-0030-1261886. Epub 2010 Aug 26.

Abstract

An electron microscopic study revealed disruption of capillary endothelial tight junctions (TJs) in both biopsied muscle, taken at 5 years and 1 month of age, and the autopsied brain, taken at 13 years and 6 months of age, in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) and mitochondrial DNA (mtDNA) point mutation A3243G. This endothelial barrier disruption might result in vasogenic edema and systemic lactic acidosis, possibly the critical pathology of MELAS.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain / pathology*
  • Brain / ultrastructure
  • DNA, Mitochondrial / genetics
  • Disease Progression
  • Female
  • Humans
  • MELAS Syndrome / genetics
  • MELAS Syndrome / pathology*
  • Microscopy, Electron, Transmission / methods
  • Point Mutation / genetics
  • Tight Junctions / diagnostic imaging
  • Tight Junctions / pathology*
  • Ultrasonography

Substances

  • DNA, Mitochondrial