2003 Fiscal Year Final Research Report Summary
Investigation of pathology for progressive myoclonus epilepsy
| Project/Area Number |
14570790
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | RIKEN (The Institute of Physical and Chemical Research) |
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Principal Investigator |
YAMAKAWA Kazuhiro RIKEN (The Institute of Physical and Chemical Research), Lab. for Neurogenetics, Laboratory Head, 神経遺伝研究チーム, チームリーダー (30241235)
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| Project Period (FY) |
2002 – 2003
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| Keywords | Epilepsy / Lafora disease / progressive myoclonus / EPM2A / laforin / HIRIP5 / dual-specificity phosphatase / NifU |
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| Research Abstract |
LD is a fatal autosomal recessive epilepsy characterized by stimuli sensitive myoclonus, grand mal seizures, and progressive intellectual and neurological deterioration. The EPM2A gene has been reported to be responsible for LD. We found multiple disease mutations of EPM2A in LD patients, and also identified a subclass of LD who shows an early onset cognitive defect and correlated with EPM2A exon 1 mutations. We reported that the laforin protein encoded by the EPM2A gene has a dual-specificity phosphatase activity, associates with polyribosome, and interacts with the HIRIP5 protein with NifU-like domain. We recently generated and reported the EPM2A KO mice those develop neurodegeneration and other features similar to those of LD patients.
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