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良性成人型家族性ミオクローヌスてんかんのDMA解析により明らかとなったSAMD12における病原性TTTCAリピート挿入とTNRC6Aにおける非病原性TTTTAリピ一ト伸長の相関
http://hdl.handle.net/10232/00031720
http://hdl.handle.net/10232/00031720a895f9f1-6d63-4467-9955-4c0bb387275c
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Diss_寺﨑_茜_ISK587_2020 (4.8 MB)
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Abstract_寺﨑_茜_4512800106_2020 (203.8 kB)
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Result_Terasaki_Akane_isk_587 (204.2 kB)
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Comments_Terasaki_Akane_isk_587 (86.0 kB)
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| Item type | 学位論文 / Thesis or Dissertation(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2021-04-14 | |||||
| タイトル | ||||||
| タイトル | DNA analysis of benign adult falmilial myoclonic epilepsy reveals assocoiations between the pathogenic TTTCA repeat insertion in SAMD12 and the non-pathogenic TTTTA repeat expansion in TNRC6A | |||||
| タイトル言語 | en | |||||
| タイトル | ||||||
| タイトル | 良性成人型家族性ミオクローヌスてんかんのDMA解析により明らかとなったSAMD12における病原性TTTCAリピート挿入とTNRC6Aにおける非病原性TTTTAリピ一ト伸長の相関 | |||||
| タイトル言語 | ja | |||||
| 著者 |
寺﨑, 茜
× 寺﨑, 茜 |
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| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||
| 資源タイプ | doctoral thesis | |||||
| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| 要約 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disease characterized by adult-onset tremulous hand movement, myoclonus, and infrequent epileptic seizures. Recently, intronic expansion of unstable TTTCA/TTTTA pentanucleotide repeats in SAMD12, TNRC6A, or RAPGEF2 was identified as pathological mutations in Japanese BAFME pedigrees. To confirm these mutations, we performed a genetic analysis on 12 Japanese BAFME pedigrees. A total of 143 participants, including 43 familial patients, 5 suspected patients, 3 sporadic nonfamilial patients, 22 unaffected familial members, and 70 unrelated controls, were screened for expanded abnormal pentanucleotide repeats in SAMD12, TNRC6A, RAPGEF2, YEAT2, MARCH6, and STARD7. DNA samples were analyzed using Southern blotting, long-range polymerase chain reaction (PCR), repeat-primed PCR, and long-range PCR followed by Southern blotting. Of the 51 individuals with clinically diagnosed or suspected BAFME, 49 carried a SAMD12 allele with an expanded TTTCA/TTTTA pentanucleotide repeat. Genetic and clinical anticipation was observed. As in previous reports, the one patient with homozygous mutant alleles showed more severe symptoms than the heterozygous carriers. In addition, screening for expanded pentanucleotide repeats in TNRC6A revealed that the frequency of expanded TTTTA repeat alleles in the BAFME group was significantly higher than in the control group. All patients who were clinically diagnosed with BAFME, including those in the original family reported by Yasuda, carried abnormally expanded TTTCA/TTTTA repeat alleles of SAMD12. Patients with BAFME also frequently carried a TTTTA repeat expansion in TNRC6A, suggesting that there may be unknown factors in the ancestry of patients with BAFME that make pentanucleotide repeats unstable. Akane Terasaki, Masayuki Nakamura, Yuka Urata, Hanae Hiwatashi, Izumi Yokoyama, Takeshi Yasuda, Teiichi Onuma, Kazumaru Wada, Sunao Kaneko, Rumiko Kan, Shin-ichi Niwa, Ohiko Hashimoto, Osamu Komure, Yu-ichi Goto, Yuko Yamagishi, Misa Nakano, Yoshihiko Furusawa & Akira Sano DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A Journal of Human Genetics 66, 419–429 (2021) This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: https://doi.org/10.1038/s10038-020-00855-0 |
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| 内容記述言語 | en | |||||
| 作成日 | ||||||
| 日付 | 2021-03-10 | |||||
| 日付タイプ | Collected | |||||
| 出版タイプ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| NDC | ||||||
| 主題Scheme | NDC | |||||
| 主題 | 490 | |||||
| ファイル（説明） | ||||||
| 内容記述 | 博士論文全文, 博士論文要旨, 最終試験結果の要旨, 論文審査の要旨 | |||||
| 公開者・出版者 | ||||||
| 出版者 | Springer Nature | |||||
| 出版者言語 | en | |||||
| 公開者・出版者 | ||||||
| 出版者 | 鹿児島大学 | |||||
| 出版者言語 | ja | |||||
| 公開者・出版者 | ||||||
| 出版者 | カゴシマ ダイガク | |||||
| 出版者言語 | ja-Kana | |||||
| 備考 | ||||||
| 備考 | 【指導教員:中村雅之】 | |||||
| date.appl | ||||||
| appl | 【学位申請日】2020-11-04 | |||||
| 学位名 | ||||||
| 学位名の言語 | ja | |||||
| 学位名 | 博士(医学) | |||||
| 学位名 | ||||||
| 学位名の言語 | en | |||||
| 学位名 | Doctor of Philosophy in Medical Science | |||||
| 学位授与機関名 | ||||||
| 学位授与機関識別子Scheme | kakenhi | |||||
| 学位授与機関識別子 | 17701 | |||||
| 学位授与機関名の言語 | ja | |||||
| 学位授与機関名 | 鹿児島大学 | |||||
| 学位授与年月日 | ||||||
| 学位授与年月日 | 2021-03-17 | |||||
| 学位授与番号 | ||||||
| 学位授与番号 | 甲総研第587号 | |||||
