K(+)‐aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation.
Why the study?
Does the V1589M mutation alter the electrophysiological properties of the human muscle Na+ channel compared to wild type?
Population
Human embryonic kidney (HEK293) cells expressing Wild type (WT) and V1589M human muscle Na+ channels
Comparison
V1589M mutation in human muscle Na+ channel vs Wild type (WT) human muscle Na+ channel
Design
Preclinical
Authors
Discussion
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Member takes
Implication
May inform myotonia pathophysiology; hypothesis-generating and leaves clinical translation open.
Structured PICO
Does the V1589M mutation alter the electrophysiological properties of the human muscle Na+ channel compared to wild type?
P
Population
Human embryonic kidney (HEK293) cells expressing Wild type (WT) and V1589M human muscle Na+ channels
I
Intervention
V1589M mutation in human muscle Na+ channel
C
Comparator
Wild type (WT) human muscle Na+ channel
O
Outcome
Na+ channel electrophysiological properties (steady-state to peak current ratio, recovery from inactivation, single-channel late openings)surrogate
The V1589M mutation destabilizes the inactivated state of the human muscle Na+ channel, increasing late openings and explaining the pathophysiology of K(+)-aggravated myotonia.
Cite This Study
Mitrovié et al. (1994) studied this question.