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タイトル: | Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells |
著者: | Sekine, Shin-ichiro Kaneko, Masayuki Tanaka, Masaki Ninomiya, Yuhei Kurita, Hisaka Inden, Masatoshi Yamada, Megumi Hayashi, Yuichi Inuzuka, Takashi Mitsui, Jun Ishiura, Hiroyuki Iwata, Atsushi Fujigasaki, Hiroto Tamaki, Hisamitsu Tamaki, Ryusei Kito, Shinsuke Taguchi, Yoshiharu Tanaka, Kortaro Atsuta, Naoki Sobue, Gen Kondo, Takayuki Inoue, Haruhisa https://orcid.org/0000-0003-4736-9537 (unconfirmed) Tsuji, Shoji Hozumi, Isao |
著者名の別形: | 関根, 信一郎 金子, 雅幸 田中, 真生 栗田, 尚佳 位田, 雅俊 山田, 恵 林, 祐一 犬塚, 貴 三井, 純 石浦, 浩之 岩田, 淳 藤ヶ﨑, 浩人 玉木, 久光 鬼頭, 伸輔 田口, 芳治 田中, 耕太郎 熱田, 直樹 祖父江, 元 近藤, 孝之 井上, 治久 辻, 省次 保住, 功 |
キーワード: | Cellular neuroscience Neurodegeneration |
発行日: | 5-Apr-2019 |
出版者: | Springer Nature |
誌名: | Scientific Reports |
巻: | 9 |
論文番号: | 5698 |
抄録: | Causative genes in patients with idiopathic basal ganglia calcification (IBGC) (also called primary familial brain calcification (PFBC)) have been reported in the past several years. In this study, we surveyed the clinical and neuroimaging data of 70 sporadic patients and 16 families (86 unrelated probands in total) in Japan, and studied variants of PDGFB gene in the patients. Variant analyses of PDGFB showed four novel pathogenic variants, namely, two splice site variants (c.160 + 2T > A and c.457−1G > T), one deletion variant (c.33_34delCT), and one insertion variant (c.342_343insG). Moreover, we developed iPS cells (iPSCs) from three patients with PDGFB variants (c.160 + 2T > A, c.457−1G > T, and c.33_34 delCT) and induced endothelial cells. Enzyme-linked immunoassay analysis showed that the levels of PDGF-BB, a homodimer of PDGF-B, in the blood sera of patients with PDGFB variants were significantly decreased to 34.0% of that of the control levels. Those in the culture media of the endothelial cells derived from iPSCs of patients also significantly decreased to 58.6% of the control levels. As the endothelial cells developed from iPSCs of the patients showed a phenotype of the disease, further studies using IBGC-specific iPSCs will give us more information on the pathophysiology and the therapy of IBGC in the future. |
著作権等: | © The Author(s) 2019. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
URI: | http://hdl.handle.net/2433/250361 |
DOI(出版社版): | 10.1038/s41598-019-42115-y |
PubMed ID: | 30952898 |
出現コレクション: | 学術雑誌掲載論文等 |
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