Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.

@article{Hayashi2002CharacterizationOA,
  title={Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.},
  author={Kenshi Hayashi and Masami Shimizu and Hidekazu Ino and Masato Yamaguchi and Hiroshi Mabuchi and Naoto Hoshi and Haruhiro Higashida},
  journal={Cardiovascular research},
  year={2002},
  volume={54 1},
  pages={67-76}
}
OBJECTIVE In a 32-year-old woman with marked QT prolongation (QTc=0.61 s) and repeated episodes of syncope, we identified a single pertinent base substitution (G to A at 1909) in HERG by genetic analysis. This novel missense mutation is predicted to cause an amino acid substitution of lysine for glutamic acid at position 637 (E637K) in the pore-S6 loop. Therefore, we investigated the role of a glutamic acid at the vicinity of the pore in HERG channels by mutating it to a lysine. METHODS We… CONTINUE READING
10 Citations
25 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 10 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 25 references

tion and mutational analysis of HERG, a gene responsible for Keating MT. A molecular basis for cardiac arrhythmia: HERG familial long QT syndrome

  • ME Curran, I Splawski, KW Timothy, GM Vincent, ED Green
  • Hum Genet 1998;102:435–439. mutations cause long…
  • 1995
Highly Influential
13 Excerpts

Fast acquired and congenital long QT syndrome . Clin Chem inactivation causes rectification of the I channel

  • PS Spector, ME Curran, A Zou, MT Keating, MC Sanguinetti
  • J Gen PhysiolKr
  • 2001

Novel 1 gain - of function mechanism in K channel - related long - QT We thank Gail A . Robertson ( University of Wisconsin ) syndrome : altered gating and selectivity in HERG 1 N 629 D mutant

  • JP Less-Miller, Y Duan, GQ Teng, K Thorstad, HJ Duff
  • Circ Res
  • 2000

Voltage - shift of the current activation in HERG S 4 mutationas the channel ’ s K selectivity . This results in a decrease ( R 534 C ) in LQTS

  • T Nakajima, T Furukawa, +6 authors Y Nakamura
  • Cardiovasc Res
  • 1999

Novel mechanism of HERG current along cardiomyocytes and thus contribute to ar - suppression in LQTS

  • T Nakajima, T Furukawa, T Tanaka, Y Katayama, R Nagai, M Hiraoka
  • Circ Res
  • 1998

Similar Papers

Loading similar papers…