| Project/Area Number |
12559010
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 展開研究 |
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| Research Field |
広領域
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| Research Institution | Fukuoka University |
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Principal Investigator |
HIROSE Shinichi Fukuoka University, School of Medicine, Assistant professor, 医学部, 助教授 (60248515)
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| Co-Investigator(Kenkyū-buntansha) |
KANEKO Sunao Hirosaki University, School of Medicine, Professor, 医学部, 教授 (40106852)
SUZUKI Tosirou Japanese SLC, Inc., Section chief (Research work), 受託試験部, 課長(研究職)
MITSUDOME Akihisa Fukuoka University, School of Medicine, Professor, 医学部, 教授 (30038749)
OKADA Motohiro Hirosaki University, School of Medicine, Assistant Professor, 医学部, 助教授 (10281916)
杉山 博之 九州大学, 理学研究院, 教授 (20124224)
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| Project Period (FY) |
2000 – 2002
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| Project Status |
Completed (Fiscal Year 2002)
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| Budget Amount *help |
¥12,200,000 (Direct Cost: ¥12,200,000)
Fiscal Year 2002: ¥3,900,000 (Direct Cost: ¥3,900,000)
Fiscal Year 2001: ¥4,500,000 (Direct Cost: ¥4,500,000)
Fiscal Year 2000: ¥3,800,000 (Direct Cost: ¥3,800,000)
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| Keywords | Epilepsy / Channel disease / transgenic animals / febrile seizures / ADNFLE / BFNC / GEFS+ / GEFS+ / 組換え動物 / CEFS+ |
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| Research Abstract |
We have made the following discoveries based on the genetic analyses searching mutations of genes encoding ion channels expressed in the central nerve system. The specimens used were in the bank holding DNA samples obtained from patients with various epilepsy syndrome. Two novel mutations have been identified in the gene encoding a1 subunit of Na+ channel, SCN1A in patients with generalized epilepsy with febrile seizures plus (GEFS+). Furthermore, we found that the gene encoding a2 subunit of Na+ channel, SCN2A is associated with autosomal dominant epilepsy with febrile seizures plus. The mutation result in slow inactivation in the channel function thereby cause hyper inimitability of the channel. Exploiting the above results, we have generated transgenic animals (rats), which harboring the same mutations identified in human epilepsy. One of such animals, that bears a CHRNA4 mutation showed convulsions. Pharmacological and electrophysiological characteristics of the animals are currently investigated.
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