Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in COX6A1
| Project/Area Number |
15K08327
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | Tohoku University |
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Principal Investigator |
Makino Satoshi 東北大学, 東北メディカル・メガバンク機構, 助教 (30423403)
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| Co-Investigator(Kenkyū-buntansha) |
田宮 元 東北大学, 東北メディカル・メガバンク機構, 教授 (10317745)
遠山 育夫 滋賀医科大学, 神経難病研究センター, 教授 (20207533)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 人類遺伝学 / ミトコンドリア / 末梢神経 / 末梢神経疾患 |
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| Outline of Final Research Achievements |
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy characterized by clinical and genetic heterogeneity. Whole-genome sequencing study in the probands, followed by mutation screening in the two families, revealed a disease-specific 5-bp deletion in a splicing element of intron 2 adjacent to the 3rd exon of COX6A1. Cox6a1 null mice showed significantly reduced COX activity and neurogenic muscular atrophy leading to a difficulty in walking. On the other hand, by electron microscope, no special findings were observed in nerve fibers. Therefore, we focused on the mitochondrial ferritin (FtMt) of metal binding protein present in mitochondria. Under oxidative stress conditions induced by hydrogen peroxide, the expression of FtMt were increased. This finding suggests that FtMt protects cells against oxidative stress by hydrogen peroxide.
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Report
(4 results)
Research Products
(3 results)
