2013 Fiscal Year Final Research Report
Pathological and molecular biological investigations of congenital ataxia mouse bearing abnormal iron metabolism
| Project/Area Number |
22310122
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Medical genome science
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| Research Institution | Jikei University School of Medicine |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
KUSAKABE Moriaki 東京大学, 農学生命科学研究科, 教授 (60153277)
TACHIBANA Toshiaki 東京慈恵会医科大学, 医学部, 准教授 (80163476)
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| Project Period (FY) |
2010-04-01 – 2014-03-31
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| Keywords | 運動失調 / モデルマウス / 鉄代謝 / NF200 / 知覚神経 |
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| Research Abstract |
Our congenital ataxia mouse had genetic alterations in the vicinity of rs13476689 in chromosome 2. Mutation analysis identified 1653 mutations including SNP, insertion and deletion. In addition, 7048 bp deletion was found in the second intron of Gm13912 gene. These genetic alterations made it possible to genotype individual animals to maintain the strain. However, the responsible genetic alterations for ataxia could not be determined. Vacuolar degenerations found in the spinal and trigeminal nerves were the spheroid formation in the axon of NF200 positive neuron. The neurodegeneations had been occurred before the onset of the disease. Real-time PCR analysis of gene expression suggested that iron deposition in the kidney was caused by diminished divalent metal ion transporter.
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