| Project/Area Number |
15591119
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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 | Sapporo Medical University |
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Principal Investigator |
TACHI Nobutada Sapporo Medical University, School of Health Sciences, Assistant Professor, 保健医療学部, 助教授 (80136944)
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| Co-Investigator(Kenkyū-buntansha) |
YAMASITA Toshiharu Sappro Medical University, School of Medicine, Assitant Professor, 医学部, 助教授 (50167706)
KOZUKA Naoki Sappro Medical University, Schoold of Health Sciences, Assitant Professor, 保健医療学部, 助教授 (90225459)
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| Project Period (FY) |
2003 – 2004
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| Project Status |
Completed (Fiscal Year 2004)
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| Budget Amount *help |
¥3,800,000 (Direct Cost: ¥3,800,000)
Fiscal Year 2004: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 2003: ¥2,700,000 (Direct Cost: ¥2,700,000)
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| Keywords | aprataxin / 689 ins T c DNA / cultured rat peripherl nerve / axonal degeneration / 変異aprataxin cDFNA導入 / 培養ラツト末鞘神経 / 軸策変性 / aprataxin cDNA / 689insT |
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| Research Abstract |
Koenig and we identified a responsible gene "aprataxin" for early-onset cerebellar ataxia with hypoalbuminemia(EOCA-HA) in Japan and cerebellar ataxia with ocular apraxia(AOA) in Portugal. The mutation of aprataxin gene in most EOCA-HA patients showed 689 insertion T(689 ins T) homozygously. First, we made a 689 ins T cDNA by site-directed mutagenesis bases on PCR. Second, we made a constructed adeno virus vector contained both wild and 689 ins T aprataxins. Third, we made a cultured rat peripheral nerve using dorsal root of fetal rat. Those cultured nerves were infected by constructed adeno virus vectors, Myelination and axonal sprouting of cultured nerves infected constructed adeno virus vector were observed by immunohistochenistory using anti-Po antibody and electron microscopy. No differences of myelination and axonal changes were observed in cultured nerves infected constructed adeno virus vector containing both a wild and 689 ins T aprataxin gene.
Further more, transgenic mouse containing 689 ins T should be obtained. Matured nerve of this mouse should be analyzed.
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