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[The effect of CACNA1H gene G773D mutation on calcium channel function]
Ju-li Wang1, Chong-yang Han, Yu-hong Jing
1Department of Pediatrics, First Hospital, Peking University, Bejing 100034, P. R. China.
Objective:
To study the effect of CACNA1H gene mutation G773D on calcium channel function.
Methods:
By the overlap extension PCR we introduced G773D mutation into a human Cav3.2acDNA for constructing the mutant. And then using whole cell clamp technique, we studied the alterations of channel behavior in transfected HEK-293 cells.
Results:
There were no difference in kinetics of activation and inactivation of calcium channel between wild type and mutant. However comparing with the wild-type Cav3.2 channel, G773D mutant could increase the calcium current density significantly.
Conclusion:
CACNA1H gene G773D mutation is able to increase calcium current and neuronal excitability.
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