The effect of CACNA1H gene G773D mutation on calcium channel function / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 369-373, 2006.
Article
in Chinese
| WPRIM
| ID: wpr-263775
ABSTRACT
<p><b>OBJECTIVE</b>To study the effect of CACNA1H gene mutation G773D on calcium channel function.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>CACNA1H gene G773D mutation is able to increase calcium current and neuronal excitability.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Physiology
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Cell Line
/
Family Health
/
Epilepsy, Absence
/
Patch-Clamp Techniques
/
Calcium Channels, T-Type
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2006
Type:
Article
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