[The effect of CACNA1H gene G773D mutation on calcium channel function]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Aug;23(4):369-73.
[Article in Chinese]

Abstract

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.

Publication types

  • Case Reports
  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Calcium Channels, T-Type / genetics*
  • Calcium Channels, T-Type / physiology*
  • Cell Line
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Epilepsy, Absence / genetics
  • Epilepsy, Absence / pathology
  • Epilepsy, Absence / physiopathology
  • Family Health
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Patch-Clamp Techniques
  • Polymorphism, Single Nucleotide

Substances

  • CACNA1H protein, human
  • Calcium Channels, T-Type