2023 Fiscal Year Final Research Report
Molecular genetic research with a view to treating Charcot-Marie-Tooth disease
| Project/Area Number |
21H02842
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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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| Review Section |
Basic Section 52020:Neurology-related
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| Research Institution | Kagoshima University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
樋口 雄二郎 鹿児島大学, 医歯学域鹿児島大学病院, 助教 (10867724)
安藤 匡宏 鹿児島大学, 鹿児島大学病院, 特任助教 (60896976)
橋口 昭大 鹿児島大学, 医歯学域鹿児島大学病院, 講師 (70760560)
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| Project Period (FY) |
2021-04-01 – 2024-03-31
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| Keywords | Charcot-Marie-Tooth / リピート伸長 / RFC1 / NOTCH2NLC |
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| Outline of Final Research Achievements |
We investigated the expansion of GGC repeats in the RFC1 gene, which is the cause of CANVAS, and the expansion of pentanucleotide repeats in the NOTCH2NLC gene, which is the cause of neuronal intranuclear inclusion disease (NIID), in patients with hereditary peripheral neuropathy. We found repeat expansions in NOTCH2NLC in 23 cases and RFC1 in 18 cases out of 2,780 patients with hereditary neuropathy, and also found that many cases of both diseases showed only peripheral neuropathy. We summarized these results in four papers, including JNNP and Front Neurol. Furthermore, we discovered and reported four genes that cause new mitochondrial-related hereditary neuropathy in patients with neuropathy (J Neurol 2022).
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| Free Research Field |
脳神経内科
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| Academic Significance and Societal Importance of the Research Achievements |
我々は、2003年以来、本邦のCMTの包括的遺伝子診断システムを開発し、遺伝子検査を提供してきた。年間250例を引き受け、3000例を超えるまでになった。次世代シークエンサーと大規模エクソームにより、900例以上のCMTの原因を同定した。2800例の症例解析はでは、NEFH変異のCMT2型、RFC1関連疾患のまとめや新規のミトコンドリア関連ニューロパチーの原因の報告、NOTCH2NLCの位置づけの報告を行った。
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