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紀伊半島及びその周辺地域における筋萎縮性側索硬化症患者の Cu/Zn SOD 遺伝子異常に関する研究
http://hdl.handle.net/10191/46897
http://hdl.handle.net/10191/468979fa97090-1ddf-442f-b340-b9a3b588f839
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
113(10)_477-484.pdf (1.8 MB)
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| Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2017-02-28 | |||||
| タイトル | ||||||
| タイトル | 紀伊半島及びその周辺地域における筋萎縮性側索硬化症患者の Cu/Zn SOD 遺伝子異常に関する研究 | |||||
| タイトル | ||||||
| タイトル | 紀伊半島及びその周辺地域における筋萎縮性側索硬化症患者の Cu/Zn SOD 遺伝子異常に関する研究 | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | jpn | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | amyotrophic lateral sclerosis | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | high incidence area | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Cu/Zn superoxide dismutase | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | missense mutation | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | low penetrance | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | neurofilament | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | 筋萎縮性側索硬化症 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | 多発地帯 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | スーパーオキシドジスムターゼ | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | ミスセンス変異 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | 低浸透率 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | ニューロフィラメント | |||||
| 資源タイプ | ||||||
| 資源 | http://purl.org/coar/resource_type/c_6501 | |||||
| タイプ | departmental bulletin paper | |||||
| その他のタイトル | ||||||
| その他のタイトル | A Missense Mutation in the Cu/Zn SOD Gene in Patients with Amyotrophic Lateral Sclerosis from the Kii Peninsula and its Vicinity, Japan | |||||
| 著者 |
菊川, 公紀
× 菊川, 公紀 |
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| 著者別名 | ||||||
| 識別子Scheme | WEKO | |||||
| 識別子 | 101389 | |||||
| 姓名 | Kikugawa, Koki | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that involves upper and lower motor neurons. The high prevalence of ALS in the natives of the Kii Peninsula of Japan as well as in the indigenous Chamorro people of Guam have been attracting intensive attention as to the pathogenesis of ALS. Since the relatively high incidence of familial onset of the disease in the Kii Peninsula and Guam was reported, a specific genetic background seems to be associated with the development of ALS. Recently, mutations in the Cu/Zn superoxide dismutase (SOD) gene (SOD 1) on human chromosome 21q22.1 have been identified in ～20% of cases of familial ALS, most commonly inherited as an autosomal dominant trait. With this background, I investigated mutational analyses of the SOD 1 of 23 patients (3 familial cases and 20 sporadic cases) with ALS from the Kii Peninsula and its vicinity. In two of the 23 patients, an identical missense mutation (substitution of Thr for Ile 113) in exon 4 was detected as a heterozygous state. Neuropathlogical examination of one of the two cases with this mutation revealed that a lot of conglomerate inclusions, which suggests accumulation of a large amount of neurofilaments, in the remaining neurons in anterior horn of the spinal cord. The Ile 113 Thr mutation in SOD 1 has been identified in some familial as well as sporadic cases with ALS, as a mutation with a low penetrance. This mutation has been reported to be associated with formation of neurofibrillary tangles in a English family, which is a characteristic feature of ALS in the Kii Peninsula and Guam. These results suggest that the Ile 113 Thr mutation is relatively prevalent mutation in this area, and potentially resultis in accumulation of neurofilament. Since the penetrance associated with this mutation is low, we should thoroughly investigate this mutation in this area including those with apparently sporadic ALS. Fothermore, the mechanism of accumulation of neurofilaments in motor neurons caused by Ile 113 Thr mutation may give a clue that contributes to the elucidation of the mechanism of neurodegeneration in ALS. | |||||
| 書誌情報 |
新潟医学会雑誌 en : 新潟医学会雑誌 巻 113, 号 10, p. 477-484, 発行日 1999-10 |
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| 出版者 | ||||||
| 出版者 | 新潟医学会 | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 00290440 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AN00182415 | |||||
| 著者版フラグ | ||||||
| 値 | publisher | |||||
