A Drosophila model of mitochondrial disease caused by a complex I mutation that uncouples proton pumping from electron transfer

@inproceedings{Burman2014ADM,
  title={A Drosophila model of mitochondrial disease caused by a complex I mutation that uncouples proton pumping from electron transfer},
  author={Jonathon L Burman and Leslie S. Itsara and E B Kayser and Wichit Suthammarak and Adrienne Wang and Matt Kaeberlein and Margaret M Sedensky and Philip G Morgan and Leo J. Pallanck},
  booktitle={Disease models & mechanisms},
  year={2014}
}
Mutations affecting mitochondrial complex I, a multi-subunit assembly that couples electron transfer to proton pumping, are the most frequent cause of heritable mitochondrial diseases. However, the mechanisms by which complex I dysfunction results in disease remain unclear. Here, we describe a Drosophila model of complex I deficiency caused by a homoplasmic mutation in the mitochondrial-DNA-encoded NADH dehydrogenase subunit 2 (ND2) gene. We show that ND2 mutants exhibit phenotypes that… CONTINUE READING