Mutations of optineurin in amyotrophic lateral sclerosis

Hirofumi Maruyama, Hiroyuki Morino, Hidefumi Ito, Yuishin Izumi, Hidemasa Kato, Yasuhito Watanabe, Yoshimi Kinoshita, Masaki Kamada, Hiroyuki Nodera, Hidenori Suzuki, Osamu Komure, Shinya Matsuura, Keitaro Kobatake, Nobutoshi Morimoto, Koji Abe, Naoki Suzuki, Masashi Aoki, Akihiro Kawata, Takeshi Hirai, Takeo Kato, Kazumasa Ogasawara, Asao Hirano, Toru Takumi, Hirofumi Kusaka, Koichi Hagiwara, Ryuji Kaji and Hideshi Kawakami ()
Additional contact information
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
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
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

Nature, 2010, vol. 465, issue 7295, 223-226

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.

Date: 2010
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DOI: 10.1038/nature08971

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