| Project/Area Number |
17591100
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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 Sapporo Medical University, Department of Dermatology, Assistant Professor, 医学部, 助教授 (50167706)
KOZUKA Naoki Sapporo Medical University, School of Health Sciences, Professor, 保健医療学部, 教授 (90225459)
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| Project Period (FY) |
2005 – 2006
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| Project Status |
Completed (Fiscal Year 2006)
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| Budget Amount *help |
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2006: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 2005: ¥2,600,000 (Direct Cost: ¥2,600,000)
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| Keywords | SMARD1 / IGHMBP2 gene / Cultured peripheral nerve / Adenovirus vector / 遺伝子導入 / SMARD 1 / 983delAAGAA IGHMBP2 cDNA / 培養ラツト神経細胞 |
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| Research Abstract |
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) known as has been reported as a variant form of SMA 1. Responsible gene is immunoglobulin mu-binding protein 2 (IGHMBP2). We identified a new homozygous missense mutation 2685 C→A of IGHMBP2 gene in a first Japanese patient with SMARD 1. First, we made a 2685 C- A IGHMBP2 cDNA by site-directed mutagenesis bases PCR. We made a constructed adeno virus vector contained both wild and 2685 C- A IGHMBP2 cDNAs. 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 2685 C- A IGHMBP2. cDNAs. Further more, transgenic mouse containing 2685 C- A IGHMBP2 should be obtained.
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