Survey of the genetic modifier for Dravet syndrome
| Project/Area Number |
22791014
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | The Institute of Physical and Chemical Research |
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Principal Investigator |
YAMAGATA Tetsushi 独立行政法人理化学研究所, 神経遺伝研究チーム, 研究員 (00338766)
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| Project Period (FY) |
2010 – 2011
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| Project Status |
Completed (Fiscal Year 2011)
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| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2011: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2010: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | てんかん / 修飾遺伝子 / モデルマウス / Scn1a / 乳児重症ミオクロニーてんかん |
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| Research Abstract |
As a model mouse for Dravet syndrome, the Nav1.1 deficient mouse(C57BL/6J background) that introduced R1407X mutation in the Scn1a gene has been investigated in our laboratory(Ogiwara et al., J Neurosci 27 : 5903-5914, 2007. Heterozygous mice(Scn1a+/-) exhibit spontaneous seizures, and approximately 60% of them survive to adulthood. Interestingly, this survivability of heterozygous mice depended on mouse strain. The strain dependency of latency of sudden death indicates that genetic background carries dominant modifier alleles at one or more loci that determine the severity of the epilepsy phenotype. In this study, to identify modifier genes, we performed genetic mapping of the sudden death phenotype using backcrossing to MSM/Ms strain. The results show 2 types of modifier genes involve in mortality induced by epilepsy. 1^<st> modifier gene that is highly sensitive to the sudden death is located on chromosome X. Because backcrossing with MSM/Ms mice increased survival rate in each generation, we estimated that the autosomes of MSM/Ms strain have 2^<nd> modifier gene(s) to resist symptoms of epilepsy also.
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Report
(3 results)
Research Products
(3 results)
