The m.3243A>G mtDNA mutation is pathogenic in an in vitro model of the human blood brain barrier.

@article{Davidson2009TheMM,
  title={The m.3243A>G mtDNA mutation is pathogenic in an in vitro model of the human blood brain barrier.},
  author={Mercy M. Davidson and Winsome F. Walker and Evelyn Hernandez-Rosa},
  journal={Mitochondrion},
  year={2009},
  volume={9 6},
  pages={463-70}
}
MELAS is a common mitochondrial disease frequently associated with the m.3243A>G point mutation in the tRNA(Leu(UUR)) of mitochondrial DNA and characterized by stroke-like episodes with vasogenic edema and lactic acidosis. The pathogenic mechanism of stroke and brain edema is not known. Alterations in the blood brain barrier (BBB) caused by respiratory chain defects in the cortical microvessels could explain the pathogenesis. To test this hypothesis we developed a tissue culture model of the… CONTINUE READING