Molecular mechanisms underlying the epilepsy using a mutant model with seizures

2014 Fiscal Year Final Research Report

• Project/Area Number: 24500399
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Neuroscience in general
• Research Institution: National Center of Neurology and Psychiatry
• Principal Investigator: TAYA Shinichiro 独立行政法人国立精神・神経医療研究センター, 神経研究所 病態生化学研究部, 室長 (60362232)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: てんかん / 発達障害

Outline of Final Research Achievements

The Ihara epileptic rat (IER) is a mutant model with limbic-like seizures whose pathology and causative gene remain elusive. We identified the responsible gene for IER, Epi-IER, which is expressed in neurons of various brain regions. A single base mutation in Epi-IER caused abnormal splicing leading to lack of Epi-IER protein in IER. Our gain- and loss-of function experiments in vivo and in vitro showed that Epi-IER is involved in neurite extension and branching. These findings help to understand the pathology of epilepsy caused by a malformed neural network and how Epi-IER functions to prevent such disorder.

Free Research Field

神経科学