| Project/Area Number |
06680741
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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 |
Nerve anatomy/Neuropathology
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| Research Institution | Kyushu University |
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Principal Investigator |
IWAKI Akiko Kyushu University, Institute of genetic Information, Assistant, 遺伝情報実験施設, 助手 (30253454)
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| Project Period (FY) |
1994 – 1996
|
| Project Status |
Completed (Fiscal Year 1996)
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| Budget Amount *help |
¥2,300,000 (Direct Cost: ¥2,300,000)
Fiscal Year 1996: ¥500,000 (Direct Cost: ¥500,000)
Fiscal Year 1995: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1994: ¥1,100,000 (Direct Cost: ¥1,100,000)
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| Keywords | dysmyelination / myelin / PLP / ミエリン形成不全症 / プロテオリピド蛋白質 |
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| Research Abstract |
Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder of the central nervous system, characterized by an early onset of nystagmus and spastic quadriplegia (motor developmental delay). It is usually fatal in infancy or childhood. In this study we analyzed the myelin proteolipid protein (PLP) gene of the 26 PMD families by PCR-SSCP followed by direct sequencing of the PCR products and then found seven novel mutations including three missense, one nonsense, one flame-shift, and two splice mutations in the PLP genes. One of the families includes 3 males who have manifestations of the juvenile form of PMD with spastic paraplegia caused by a splice mutation. There was no mutation in the exons of the PLP genes of the remaining 19 PMD families. Further analysis of the causes of the disease in those PMD families are now under investigations. To know the relationship of phenotype of PMD with the mutation and the function of PLP,we established a system for expression of the exogenous PLP/DM20 gene in cultured cells before trying to make a mouse model for PMD.We obtained C6 cells expressing DM20 under the control of the MMTV promoter and prepared antibodies against DM20-peptides to investigate the intracellular localization of DM20. Characterzation of those cells are proceeded.
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