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Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells
https://gifu-pu.repo.nii.ac.jp/records/13708
https://gifu-pu.repo.nii.ac.jp/records/13708fbedd9d2-385d-4e80-b93c-39d832399029
Item type | 研究室原著論文(1) | |||||
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公開日 | 2020-03-03 | |||||
タイトル | ||||||
タイトル | Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
アクセス権 | ||||||
アクセス権 | metadata only access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
抄録 | ||||||
値 | 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. | |||||
書誌情報 |
Scientific Reports en : Scientific Reports 巻 9, 号 1, p. 5698, 発行日 2019 |
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DOI | ||||||
値 | 10.1038/s41598-019-42115-y |