Why the study?
Do pharmacologic chaperones rescue hERG currents and protein trafficking in HEK293 cells expressing the G604S-hERG mutation?
Do pharmacologic chaperones rescue hERG currents and protein trafficking in HEK293 cells expressing the G604S-hERG mutation?
E-4031 can pharmacologically rescue hERG currents and promote channel processing and trafficking in cells co-expressing the LQT2-associated G604S-hERG mutation and WT-hERG.
Should not yet change LQT2 practice; leaves open pharmacologic chaperone potential for trafficking-defective hERG mutations.
Mutations in human ether-a-go-go-related gene (hERG) can lead to type 2 long-QT syndrome (LQT2). The authors previously identified the hERG mutation G604S results in a loss of function and obviously decreased current amplitude and impaired channel protein trafficking when co-expressed with WT-hERG. The present study further investigates the biological and electrophysiological consequences of pharmacologic chaperones in HEK293 cells expressing G604S-hERG or co-expressing G604S-hERG and WT-hERG. It was found that a low temperature (27°C), thapsigargin, NS1643 and E-4031 fail to rescue the G604S mutation. Interestingly, only E-4031 treatment resulted in a significant increase in hERG currents in cells co-expressing G604S-hERG and WT-hERG, correspondingly more mature protein band at 155 kDa by Western blotting and an increased membrane staining by confocal microscopy. In addition, E-4031 treatment shifted the steady-state half maximal activation voltage (V1/2 ) of the inactivation curve by +8 mV in cells co-expressing G604S-hERG and WT-hERG. The present experimental results suggest that a G604S mutation is resistant to pharmacological rescue. E-4031 treatment resulted in a significant increase in hERG currents by promoting the hERG channel processing and trafficking in cells co-expressing G604S-hERG and WT-hERG.
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Huo et al. (2016) studied this question.
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