Why the study?
Does the A1152D mutation in the human skeletal muscle Na+ channel alter channel gating kinetics and fast inactivation compared to wild-type?
Population
HEK293 cells stably expressing human skeletal muscle Na+ channel alpha subunit mutant or wild-type channels
Comparison
A1152D mutation in the S4-S5 linker of domain… vs Wild-type (WT) hSkM1 channels
Design
Preclinical
Authors
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May link A1152D to cold-aggravated myotonia; leaves open human validation and therapeutic targeting.
Does the A1152D mutation in the human skeletal muscle Na+ channel alter channel gating kinetics and fast inactivation compared to wild-type?
The A1152D mutation in the human skeletal muscle Na+ channel disrupts fast inactivation and accelerates deactivation, defects that are exacerbated by cold and may explain the repetitive firing and myotonia seen in paramyotonia congenita.
Bouhours et al. (2005) studied this question.
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