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.
Artículo
en Chino
| 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>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Fisiología
/
Análisis Mutacional de ADN
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Línea Celular
/
Salud de la Familia
/
Epilepsia Tipo Ausencia
/
Técnicas de Placa-Clamp
/
Canales de Calcio Tipo T
Límite:
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2006
Tipo del documento:
Artículo
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