首页 文献索引 SCI期刊 AI助手
首页 正文

Neurobiology of aging. 2022 May:113:131-136. doi: 10.1016/j.neurobiolaging.2021.12.002 Q23.52025

Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis

DNAJC7基因在散发性肌萎缩侧索硬化症日本患者中的突变筛查 翻译改进

Genki Tohnai  1, Ryoichi Nakamura  1, Naoki Atsuta  1, Masahiro Nakatochi  2, Naoki Hayashi  3, Daisuke Ito  4, Hazuki Watanabe  5, Hirohisa Watanabe  6, Masahisa Katsuno  4, Yuishin Izumi  7, Akira Taniguchi  8, Kazuaki Kanai  9, Mitsuya Morita  10, Osamu Kano  11, Satoshi Kuwabara  12, Masaya Oda  13, Koji Abe  14, Masashi Aoki  15, Ikuko Aiba  16, Koichi Okamoto  17, Kouichi Mizoguchi  18, Tomohiko Ishihara  19, Akihiro Kawata  20, Takanori Yokota  21, Kazuko Hasegawa  22, Isao Nagano  23, Ichiro Yabe  24, Fumiaki Tanaka  25, Satoshi Kuru  26, Nobutaka Hattori  27, Kenji Nakashima  28, Ryuji Kaji  7, Gen Sobue  29; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS)

作者单位 +展开

作者单位

  • 1 Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Aichi Medical University, Nagakute, Japan.
  • 2 Public Health Informatics Unit, Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine.
  • 3 Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Department of Neurology, Kariya Toyota General Hospital, kariya, Japan.
  • 4 Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • 5 Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Department of Neurology, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya, Japan.
  • 6 Brain and Mind Research Center, Nagoya University, Nagoya, Japan; Department of Neurology, Fujita Health University, Toyoake, Japan.
  • 7 Department of Neurology, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
  • 8 Department of Neurology, Mie University Graduate School of Medicine, Tsu, Japan.
  • 9 Department of Neurology, Juntendo University Graduate School of Medicine, Tokyo, Japan; Department of Neurology, Fukushima Medical University School of Medicine, Fukushima, Japan.
  • 10 Division of Neurology, Department of Internal Medicine, Jichi Medical University, Shimotsuke, Japan.
  • 11 Division of Neurology, Department of Internal Medicine, Toho University Faculty of Medicine, Tokyo, Japan.
  • 12 Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.
  • 13 Department of Neurology, Vihara Hananosato Hospital, Miyoshi, Japan.
  • 14 Department of Neurology, Okayama University Graduate School of Medicine, Okayama, Japan.
  • 15 Department of Neurology, Tohoku University School of Medicine, Sendai, Japan.
  • 16 Department of Neurology, National Hospital Organization Higashinagoya National Hospital, Nagoya, Japan.
  • 17 Department of Neurology, Geriatrics Research Institute and Hospital, Maebashi, Japan.
  • 18 Department of Neurology, National Hospital Organization Shizuoka Medical Center, Shizuoka, Japan.
  • 19 Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
  • 20 Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • 21 Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Tokyo, Japan.
  • 22 Division of Neurology, Sagamihara National Hospital, Sagamihara, Japan.
  • 23 Department of Neurology, National Hospital Organization Miyagi National Hospital, Watari-gun, Japan.
  • 24 Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • 25 Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • 26 Department of Neurology, National Hospital Organization Suzuka National Hospital, Mie, Japan.
  • 27 Department of Neurology, Juntendo University Graduate School of Medicine, Tokyo, Japan.
  • 28 Department of Neurology, National Hospital Organization, Matsue Medical Center, Matsue, Japan.
  • 29 Aichi Medical University, Nagakute, Japan; Brain and Mind Research Center, Nagoya University, Nagoya, Japan. Electronic address: sobueg@aichi-med-u.ac.jp.

    • DOI: 10.1016/j.neurobiolaging.2021.12.002 PMID: 35039179

    摘要 Ai翻译

    DNAJC7 has recently been identified as an amyotrophic lateral sclerosis (ALS) gene via large-scale exome analysis, and its involvement in ALS is still unclear in various populations. This study aimed to determine the frequencies and characteristics of the DNAJC7 variants in a Japanese ALS cohort. A total of 807 unrelated Japanese patients with sporadic ALS were screened via exome analysis. In total, we detected six rare missense variants and one splice-site variant of the DNAJC7 gene, which are not reported in the Japanese public database. Furthermore, the missense variants are located around the TPR domain, which is important for the function of DNAJC7. The total frequency of the DNAJC7 variants in Japanese ALS patients was estimated at 0.87%. Collectively, these results suggest that variants of DNAJC7 are rare cause of Japanese patients with sporadic ALS.

    Keywords: Amyotrophic lateral sclerosis; DNAJC7; Whole-exome sequencing.

    Keywords：mutation screening; dnajc7 gene; amyotrophic lateral sclerosis

    关键词：突变筛查; DNAXC7基因; 肌萎缩侧索硬化症

    Copyright © Neurobiology of aging. 中文内容为AI机器翻译，仅供参考！

    相关内容

    期刊名：Neurobiology of aging

    缩写：NEUROBIOL AGING

    ISSN：0197-4580

    e-ISSN：1558-1497

    IF/分区：3.5/Q2

    文章目录 更多期刊信息

    全文链接
    官方链接
    PMC全文
    引文链接
    复制
    已复制！
    推荐内容
    Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis