Pathophysiology of the MELAS 3243 transition mutation.

  title={Pathophysiology of the MELAS 3243 transition mutation.},
  author={A Flierl and Heinz Reichmann and Peter Seibel},
  journal={The Journal of biological chemistry},
  volume={272 43},
Single base substitutions of the mitochondrial genome are associated with a variety of metabolic disorders. The myopathy, encephalopathy, lactic acidosis, stroke-like episodes syndrome, most frequently associated with an A to G transition mutation at position 3243 of the mitochondrial tRNALeu(UUR) gene, is characterized by biochemical and structural alterations of mitochondria. To investigate the pathophysiology of the mutation, we established distinct Epstein-Barr virus-transformed B-cell… CONTINUE READING


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