Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel.

@article{Harmer2012ReadthroughOL,
  title={Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel.},
  author={Stephen C Harmer and Jagdeep S Mohal and Duncan Kemp and Andrew Tinker},
  journal={The Biochemical journal},
  year={2012},
  volume={443 3},
  pages={635-42}
}
The nonsense mutations R518X-KCNQ1 and Q530X-KCNQ1 cause LQT1 (long-QT syndrome type 1) and result in a complete loss of I(Ks) channel function. In the present study we attempted to rescue the function of these mutants, in HEK (human embryonic kidney)-293 cells, by promoting readthrough of their PTCs (premature termination codons) using the pharmacological agents G-418, gentamicin and PTC124. Gentamicin and G-418 acted to promote full-length channel protein expression from R518X at 100 μM and… CONTINUE READING