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Mutations of optineurin in amyotrophic lateral sclerosis

Author

Listed:
  • Hirofumi Maruyama

    (Research Institute for Radiation Biology and Medicine, Hiroshima University)

  • Hiroyuki Morino

    (Research Institute for Radiation Biology and Medicine, Hiroshima University)

  • Hidefumi Ito

    (Kansai Medical University
    Present address: Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan.)

  • Yuishin Izumi

    (University of Tokushima Graduate School)

  • Hidemasa Kato

    (Research Center for Genomic Medicine, Saitama Medical University)

  • Yasuhito Watanabe

    (Laboratory of Integrative Bioscience, Hiroshima University Graduate School of Biomedical Sciences)

  • Yoshimi Kinoshita

    (Kansai Medical University)

  • Masaki Kamada

    (Research Institute for Radiation Biology and Medicine, Hiroshima University
    University of Tokushima Graduate School)

  • Hiroyuki Nodera

    (University of Tokushima Graduate School)

  • Hidenori Suzuki

    (Faculty of Human Science, Hiroshima Bunkyo Women’s University)

  • Osamu Komure

    (South Osaka Neurosurgical Hospital)

  • Shinya Matsuura

    (Research Institute for Radiation Biology and Medicine, Hiroshima University)

  • Keitaro Kobatake

    (Kobatake Hospital)

  • Nobutoshi Morimoto

    (Okayama University, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences)

  • Koji Abe

    (Okayama University, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences)

  • Naoki Suzuki

    (Tohoku University School of Medicine)

  • Masashi Aoki

    (Tohoku University School of Medicine)

  • Akihiro Kawata

    (Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan)

  • Takeshi Hirai

    (Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan)

  • Takeo Kato

    (Haematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine)

  • Kazumasa Ogasawara

    (School of Medicine, Shiga University of Medical Science)

  • Asao Hirano

    (Montefiore Medical Center, New York, New York 10467-2490, USA)

  • Toru Takumi

    (Laboratory of Integrative Bioscience, Hiroshima University Graduate School of Biomedical Sciences)

  • Hirofumi Kusaka

    (Kansai Medical University)

  • Koichi Hagiwara

    (Saitama Medical University)

  • Ryuji Kaji

    (University of Tokushima Graduate School)

  • Hideshi Kawakami

    (Research Institute for Radiation Biology and Medicine, Hiroshima University)

Abstract

Optineurin defects in ALS About 10% of cases of the motor neuron disease amyotrophic lateral sclerosis (ALS) are familial, but the small number of mutations so far identified account for only around 20–30% of the those cases. A new study of individuals from ALS-carrying families has now identified three different and previously unknown mutations of OPTN, the gene encoding optineurin. OPTN was earlier reported to be the causative gene of rare familial glaucoma. Optineurin's ability to inhibit activation of the regulatory protein NF-κB is lost in the mutant forms, suggesting that NF-κB inhibitors might be useful in ALS treatment.

Suggested Citation

  • Hirofumi Maruyama & Hiroyuki Morino & Hidefumi Ito & Yuishin Izumi & Hidemasa Kato & Yasuhito Watanabe & Yoshimi Kinoshita & Masaki Kamada & Hiroyuki Nodera & Hidenori Suzuki & Osamu Komure & Shinya M, 2010. "Mutations of optineurin in amyotrophic lateral sclerosis," Nature, Nature, vol. 465(7295), pages 223-226, May.
    • Handle: RePEc:nat:nature:v:465:y:2010:i:7295:d:10.1038_nature08971
    DOI: 10.1038/nature08971
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    Citations

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    Cited by:

    1. Dong Liu & Hannah C. Webber & Fuyun Bian & Yangfan Xu & Manjari Prakash & Xue Feng & Ming Yang & Hang Yang & In-Jee You & Liang Li & Liping Liu & Pingting Liu & Haoliang Huang & Chien-Yi Chang & Liang, 2025. "Optineurin-facilitated axonal mitochondria delivery promotes neuroprotection and axon regeneration," Nature Communications, Nature, vol. 16(1), pages 1-23, December.
    2. Thomas S Wingo & David J Cutler & Nicole Yarab & Crystal M Kelly & Jonathan D Glass, 2011. "The Heritability of Amyotrophic Lateral Sclerosis in a Clinically Ascertained United States Research Registry," PLOS ONE, Public Library of Science, vol. 6(11), pages 1-5, November.

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