| 研究課題/領域番号 |
17F17714
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| 研究機関 | 埼玉医科大学 |
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研究代表者 |
岡崎 康司 埼玉医科大学, 医学部, 客員教授 (80280733)
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| 研究分担者 |
LIM SZE CHERN 埼玉医科大学, 医学部, 外国人特別研究員
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| 研究期間 (年度) |
2017-07-26 – 2019-03-31
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| キーワード | Mitochondria / Human genetics / Molecular biology |
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| 研究実績の概要 |
The aim of my current research is to identify the molecular causes of disease in patients with mitochondrial disease and to discover novel disease genes. I investigated 8 mitochondrial disease patients with candidate mutations in 7 genes, 6 of which have never been linked to human mitochondrial disease. Bioinformatic, molecular genetic and biochemical analyses including Sanger sequencing, DNA cloning, qPCR, SDS-PAGE and BN-PAGE western blotting, respiration rate analysis and OXPHOS enzyme assays had been performed. As a result, three of the genes have been excluded from further analysis due to the lack of evidence for pathogenicity of the candidate mutations. Lentiviral-mediated phenotypic rescue experiments had been performed in fibroblast cell lines from 4 of the patients.
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| 現在までの達成度 (区分) |
現在までの達成度 (区分)
2: おおむね順調に進展している
理由
I investigated the molecular causes of disease in 8 patients with early-onset mitochondrial disease. Various bioinformatic, biochemical and molecular genetic analyses were performed. I established a new research collaboration with Dr Diana Stojanovski from University of Melbourne, Australia.
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| 今後の研究の推進方策 |
In FY2018, I will continue my research to confirm the pathogenicity of candidate mutations in 6 patients with mitochondrial disease. I will set up a 2D-PAGE western blotting system in the lab to analyze patient samples. The cell lines I generated from lentiviral-mediated rescue experiments will be analyzed by western blotting and respiration rate analysis.
Furthermore, I plan to improve my computational skill which is fundamental for advanced bioinformatic analysis of next generation sequencing data. I plan to attend the 3rd HVP Variant Effect Prediction Training Course and the Cold Spring Harbor Laboratory Computational Genomics course.
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