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Comprehensive genetic analysis of ALS-related genes in Japanese sporadic ALS patients

Research Project

Project/Area Number 15K19485
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Neurology
Research InstitutionNagoya University

Principal Investigator

NAKAMURA Ryoichi  名古屋大学, 医学部附属病院, 医員 (80723030)

Project Period (FY) 2015-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywords筋萎縮性側索硬化症 / ALS / 次世代シークエンサー / 網羅的遺伝子解析 / 遺伝子変異 / 分子疫学 / ターゲットリシークエンス / SOD1 / 網羅的解析 / ゲノム / 候補遺伝子 / 脳神経疾患
Outline of Final Research Achievements

To investigated the frequency and contribution of variants of the 28 known amyotrophic lateral sclerosis (ALS)-related genes in Japanese ALS patients, we designed a multiplex, PCR-based primer panel to amplify the coding regions of the 28 ALS-related genes and sequenced DNA samples from Japanese sporadic ALS patients using an Ion Torrent PGM sequencer. We identified the known ALS pathogenic variants and predicted the functional properties of novel non-synonymous variants in silico. These variants were confirmed by Sanger sequencing. Known pathogenic variants were identified 14 (3.0%) of the 469 sporadic ALS patients. Thirty-two sporadic ALS patients (6.8%) harbored one or two novel non-synonymous variants of ALS-related genes that might be deleterious. This study reports the first extensive genetic screening of Japanese ALS patients. These findings are useful for developing genetic screening and counseling strategies for such patients.

Report

(3 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • Research Products

    (12 results)

All 2017 2016 2015

All Journal Article (5 results) (of which Peer Reviewed: 5 results,  Open Access: 2 results,  Acknowledgement Compliant: 1 results) Presentation (7 results) (of which Int'l Joint Research: 1 results)

  • [Journal Article] Structural MRI correlates of prognosis in amyotrophic lateral sclerosis2017

    • Author(s)
      Joe Senda、Naoki Atsuta、Hirohisa Watanabe、Bagarinao Epifanio Jr、Kazunori Imai、Daichi Yokoi、Yuchi Riku、Michihito Masuda、Ryoichi Nakamura、Hazuki Watanabe、Mizuki Ito、Masahisa Katsuno、Shinji Naganawa、Gen Sobue
    • Journal Title

      Journal of Neurology, Neurosurgery & Psychiatry

      Volume: in press

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Involvement of the caudate nucleus head and its networks in sporadic amyotrophic lateral sclerosis-frontotemporal dementia continuum.2016

    • Author(s)
      Masuda, M., Senda, J., Watanabe, H., Epifanio, B., Tanaka, Y., Imai, K., Riku, Y., Li, Y., Nakamura, R., Ito, M., Ishigaki, S., Atsuta, N., Koike, H., Katsuno, M., Hattori, N., Naganawa, S., and Sobue, G.
    • Journal Title

      Amyotroph Lateral Scler Frontotemporal Degener

      Volume: 17 Issue: 7-8 Pages: 571-579

    • DOI

      10.1080/21678421.2016.1211151

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Age of onset differentially influences the progression of regional dysfunction in sporadic amyotrophic lateral sclerosis2016

    • Author(s)
      Daichi Yokoi、Naoki Atsuta、Hazuki Watanabe、Ryoichi Nakamura、Akihiro Hirakawa、Mizuki Ito、Hirohisa Watanabe、Masahisa Katsuno、Yuishin Izumi、Mitsuya Morita、Akira Taniguchi、Masaya Oda、Koji Abe、Kouichi Mizoguchi、Osamu Kano、Satoshi Kuwabara、Ryuji Kaji、Gen Sobue、JaCALS
    • Journal Title

      Journal of Neurology

      Volume: 263 Issue: 6 Pages: 1129-1136

    • DOI

      10.1007/s00415-016-8109-0

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN.2016

    • Author(s)
      Watanabe H, Atsuta N, Hirakawa A, Nakamura R, Nakatochi M, Ishigaki S, Iida A, Sobue G.
    • Journal Title

      J Neurol Neurosurg Psychiatry

      Volume: in press Issue: 8 Pages: 851-8

    • DOI

      10.1136/jnnp-2015-311541

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort2016

    • Author(s)
      Ryoichi Nakamura, Jun Sone, Naoki Atsuta, Genki Tohnai, Hazuki Watanabe, Daichi Yokoi, Masahiro Nakatochi, Hirohisa Watanabe, Mizuki Ito, Jo Senda, Masahisa Katsuno, Fumiaki Tanaka, Yuanzhe Li, Yuishin Izumi, Mitsuya Morita, Akira Taniguchi, Osamu Kano, Masaya Oda, Satoshi Kuwabara, Koji Abe.
    • Journal Title

      Neurobiology of Aging

      Volume: 39 Pages: 219-219

    • DOI

      10.1016/j.neurobiolaging.2015.11.030

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Presentation] 孤発性筋萎縮性側索硬化症患者における発症年齢と遺伝学的背景に関する検討2016

    • Author(s)
      中村 亮一、曽根 淳、熱田 直樹、藤内 玄規、横井 大知、中杤 昌弘、渡辺 宏久、伊藤 瑞規、勝野 雅央、和泉 唯信、森田 光哉、谷口 彰、服部 信孝、織田 雅也、狩野 修、桑原 聡、阿部 康二、梶 龍兒、祖父江 元、JaCALS
    • Organizer
      第57回日本神経学会学術大会
    • Place of Presentation
      神戸コンベンションセンター(兵庫県神戸市)
    • Year and Date
      2016-05-18
    • Related Report
      2016 Annual Research Report
  • [Presentation] A rapid functional decline type of sporadic ALS is linked to low expression of TTN2016

    • Author(s)
      渡辺 はづき、平川 晃弘、中村 亮一、中杤 昌弘、石垣 診祐、飯田 有俊、池川 志郎、横井 大知、勝野 雅央、和泉 唯信、森田 光哉、谷口 彰、阿部 康二、溝口 功一、狩野 修、梶 龍兒、祖父江 元、JaCALS
    • Organizer
      第57回日本神経学会学術大会
    • Place of Presentation
      神戸コンベンションセンター(兵庫県神戸市)
    • Year and Date
      2016-05-18
    • Related Report
      2016 Annual Research Report
  • [Presentation] The SMN gene copy number states in Japanese ALS patients2016

    • Author(s)
      石原 智彦、豊田 佐織、小山 哲秀、熱田 直樹、中村 亮一、藤内 玄規、曽根 淳、和泉 唯信、梶 龍兒、森田 光哉、谷口 彰、祖父江 元、JaCALS、小野寺 理、西澤 正豊
    • Organizer
      第57回日本神経学会学術大会
    • Place of Presentation
      神戸コンベンションセンター(兵庫県神戸市)
    • Year and Date
      2016-05-18
    • Related Report
      2016 Annual Research Report
  • [Presentation] ALS患者に対する換気補助療法の予後2016

    • Author(s)
      横井 大知、熱田 直樹、渡辺 はづき、中村 亮一、平川 晃弘、伊藤 瑞規、渡辺 宏久、勝野 雅央、和泉 唯信、森田 光哉、谷口 彰、織田 雅也、阿部 康二、溝口 功一、狩野 修、桑原 聡、梶 龍兒、祖父江 元
    • Organizer
      第57回日本神経学会学術大会
    • Place of Presentation
      神戸コンベンションセンター(兵庫県神戸市)
    • Year and Date
      2016-05-18
    • Related Report
      2016 Annual Research Report
  • [Presentation] 次世代シークエンサーを用いたALS関連遺伝子多型の探索2016

    • Author(s)
      中村 亮一、祖父江 元、曽根 淳、中杤 昌弘、藤内 玄規、勝野 雅央、熱田 直樹.
    • Organizer
      平成27年度次世代シークエンサーを用いた孤発性の神経難病の発症機構の解明と治療法開発に関する研究班会議
    • Place of Presentation
      神戸大学医学部附属病院(兵庫県神戸市)
    • Year and Date
      2016-03-04
    • Related Report
      2015 Research-status Report
  • [Presentation] Comprehensive genetic screening of 28 ALS-related genes in a Japanese ALS cohort2015

    • Author(s)
      Ryoichi Nakamura, Jun Sone, Naoki Atsuta, Genki Tohnai, Hazuki Watanabe, Daichi Yokoi, Masahiro Nakatochi, Hirohisa Watanabe, Mizuki Ito, Masahisa Katsuno, Fumiaki Tanaka, Nobutaka Hattori, Yuishin Izumi, Mitsuya Morita, Akira Taniguchi, Koji Abe, Masaya Oda, Koichi Mizoguchi, Ryuji Kaji, Gen Sobue.
    • Organizer
      26th international symposium on ALS/MND
    • Place of Presentation
      Orland (USA)
    • Year and Date
      2015-12-11
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] 日本におけるALS疾患関連遺伝子の網羅的解析2015

    • Author(s)
      中村亮一、曽根淳、熱田直樹、藤内玄規、中杤昌弘、渡辺はづき、横井大知、渡辺宏久、伊藤瑞規、勝野雅央、田中章景、服部信孝、和泉唯信、森田光哉、谷口彰、阿部康二、織田雅也、溝口功一、梶龍兒、祖父江元
    • Organizer
      第33回日本神経治療学会
    • Place of Presentation
      名古屋国際会議場(愛知県名古屋)
    • Year and Date
      2015-11-28
    • Related Report
      2015 Research-status Report

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Published: 2015-04-16   Modified: 2018-03-22  

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