Structural and functional analyses of voltage-gated sodium channel beta subunits

2014 Fiscal Year Final Research Report

• Project/Area Number: 24770195
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Cell biology
• Research Institution: The Institute of Physical and Chemical Research
• Principal Investigator: SHIMIZU Hideaki 独立行政法人理化学研究所, ライフサイエンス技術基盤研究センター, 研究員 (10360562)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 電位依存性ナトリウムチャネルβサブユニット

Outline of Final Research Achievements

The voltage-gated sodium channel β subunits (β1-β4, encoded by SCN1B-4B, respectively) reportedly function as cell adhesion molecules. A genetic epilepsy syndrome, generalized epilepsy with febrile seizures plus　(GEFS+), has been correlated directly with mutations in SCN1B, encoding β1, suggesting a potential causal relationship between cell-cell adhesion and GEFS+ pathogenesis. In this study, we identified the relationship between the structural feature and cell-cell adhesion of beta subunits. In addition, we found that the GEFS+ mutations could disrupt the trans-homophilic interaction in cell-cell adhesion.

Free Research Field

分子生物学、構造生物学