RNA Dysmetabolism and Repeat-Associated Non-AUG Translation in Frontotemporal Lobar Degeneration/Amyotrophic Lateral Sclerosis due to C9orf72 Hexanucleotide Repeat Expansion

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  • Mori Kohji
    Psychiatry, Osaka University Graduate School of Medicine, Suita, Japan
  • Gotoh Shiho
    Psychiatry, Osaka University Graduate School of Medicine, Suita, Japan
  • Uozumi Ryota
    Psychiatry, Osaka University Graduate School of Medicine, Suita, Japan
  • Miyamoto Tesshin
    Psychiatry, Osaka University Graduate School of Medicine, Suita, Japan Seifukai Ibaraki Hospital, Ibaraki, Japan
  • Akamine Shoshin
    Psychiatry, Osaka University Graduate School of Medicine, Suita, Japan
  • Kawabe Yuya
    Psychiatry, Osaka University Graduate School of Medicine, Suita, Japan Minoh Neuropsychiatric Hospital, Minoh, Japan
  • Tagami Shinji
    Minoh Neuropsychiatric Hospital, Minoh, Japan Health and Counseling Center, Osaka University, Toyonaka, Japan
  • Ikeda Manabu
    Psychiatry, Osaka University Graduate School of Medicine, Suita, Japan

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タイトル別名
  • RNA Dysmetabolism and Repeat-Associated Non-AUG Translation in Frontotemporal Lobar Degeneration/Amyotrophic Lateral Sclerosis due to <i>C9orf72</i> Hexanucleotide Repeat Expansion

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説明

<p>Neuropathological features of frontotemporal dementia and amyotrophic lateral sclerosis (ALS) due to C9orf72 GGGGCC hexanucleotide repeat expansion include early dipeptide repeats, repeat RNA foci, and subsequent TDP-43 pathologies. Since the discovery of the repeat expansion, extensive studies have elucidated the disease mechanism of how the repeat causes neurodegeneration. In this review, we summarize our current understanding of abnormal repeat RNA metabolism and repeat-associated non-AUG translation in C9orf72 frontotemporal lobar degeneration/ALS. For repeat RNA metabolism, we specifically focus on the role of hnRNPA3, the repeat RNA-binding protein, and the EXOSC10/RNA exosome complex, an intracellular RNA-degrading enzyme. In addition, the mechanism of repeat-associated non-AUG translation inhibition via TMPyP4, a repeat RNA-binding compound, is discussed.</p>

収録刊行物

  • JMA Journal

    JMA Journal 6 (1), 9-15, 2023-01-16

    公益社団法人 日本医師会 / 日本医学会

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