Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

@article{Poulton1994DeficiencyOT,
  title={Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.},
  author={Joanna Poulton and Karl J Morten and C Freeman-Emmerson and Catherine Potter and Caroline S Sewry and Victor Dubowitz and Heather Kidd and James T. Stephenson and William Whitehouse and Flemming Juul Hansen},
  journal={Human molecular genetics},
  year={1994},
  volume={3 10},
  pages={1763-9}
}
Recent studies show that patients presenting with cytochrome oxidase (COX) deficiency in infancy may have reduced mitochondrial DNA (mtDNA) in muscle. The human mitochondrial transcription factor A (h-mtTFA) may be an important regulator of both transcription and replication of mtDNA. h-mtTFA levels were investigated in cell lines which were either free of mtDNA (rho 0) or temporarily depleted by treatment with dideoxycytidine (ddC), and in tissue from three patients with mtDNA depletion and… CONTINUE READING

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