Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus

@article{Manfredi2002RescueOA,
  title={Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus},
  author={Giovanni Manfredi and Jiamei Fu and Joseline Ojaimi and James E. Sadlock and Jennifer Q Kwong and John Guy and E. A. Schon},
  journal={Nature Genetics},
  year={2002},
  volume={30},
  pages={394-399}
}
A T→G transversion at nt 8993 in mitochondrial DNA of MTATP6 (encoding ATPase 6 of complex V of the respiratory chain) causes impaired mitochondrial ATP synthesis in two related mitochondrial disorders: neuropathy, ataxia and retinitis pigmentosa and maternally inherited Leigh syndrome. To overcome the biochemical defect, we expressed wildtype ATPase 6 protein allotopically from nucleus-transfected constructs encoding an amino-terminal mitochondrial targeting signal appended to a recoded ATPase… CONTINUE READING