Properties of a Novel GABA<SUB>A</SUB> Receptor <I>γ</I><SUB>2</SUB> Subunit Mutation Associated With Seizures

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概要

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• We recently identified a novel missense mutation of the <I>γ</I><SUB>2</SUB> subunit at position 40 with serine (N40S) of the GABA<SUB>A</SUB> receptor from a patient with epilepsy. Here, we report properties of the mutant receptor using the whole cell patch clamp technique. The Hill coefficient for the N40S receptor was greater than for the wild-type (WT) receptor, while the EC50 and kinetics did not differ. Furthermore, the effects of diazepam, Zn<SUP>2+</SUP>, bicuculline, and pH were indistinguishable between WT and N40S receptors. These results suggest that the changes in the steepness of the concentration–response relationship for GABA in the N40S receptor may trigger epilepsy.

著者

• Kaneko Sunao

  Department Of Neuropsychiatry Hirosaki University

• Yamada Junko

  Department Of Biology And Geosciences Faculty Of Science Shizuoka University

• Migita Keisuke

  Department Of Neurophysiology Hirosaki University Graduate School Of Medicine

• Hirose Shinichi

  Department Of Biomolecular Engineering Graduate School Of Bioscience And Biotechnology Tokyo Institu

• Shi Xiuyu

  Department Of Pediatrics School Of Medicine Fukuoka University

• UENO Shinya

  Department of Chemical Pharmacology, Faculty of Pharmaceutical Sciences, University of Tokyo

• Migita Keisuke

  Department of Neurophysiology, Hirosaki University Graduate School of Medicine, Japan

• Nikaido Yoshikazu

  Department of Neurophysiology, Hirosaki University Graduate School of Medicine, Japan

• Kaneko Sunao

  Department of Neuropsychiatry, Hirosaki University Graduate School of Medicine, Japan

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