Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification

Kazuya Nishii, Ritsuko Shimogawa, Hisaka Kurita, Masatoshi Inden, Michio Kobayashi, Itaru Toyoshima, Yoshiharu Taguchi, Akihiro Ueda, Hidetaka Tamune, Isao Hozumi

研究成果: Article

抜粋

Idiopathic basal ganglia calcification (IBGC) is a rare intractable disease characterized by abnormal mineral deposits, including mostly calcium in the basal ganglia, thalamus, and cerebellum. SLC20A2 is encoding the phosphate transporter PiT-2 and was identified in 2012 as the causative gene of familial IBGC. In this study, we investigated functionally two novel SLC20A2 variants (c.680C > T, c.1487G > A) and two SLC20A2 variants (c.82G > A, c.358G > C) previously reported from patients with IBGC. We evaluated the function of variant PiT-2 using stable cell lines. While inorganic phosphate (Pi) transport activity was abolished in the cells with c.82G > A, c.358G > C, and c.1487G > A variants, activity was maintained at 27.8% of the reference level in cells with the c.680C > T variant. Surprisingly, the c.680C > T variant had been discovered by chance in healthy members of an IBGC family, suggesting that partial preservation of Pi transport activity may avoid the onset of IBGC. In addition, we confirmed that PiT-2 variants could be translocated into the cell membrane to the same extent as PiT-2 wild type. In conclusion, we investigated the PiT-2 dysfunction of four SLC20A2 variants and suggested that a partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of IBGC.

元の言語English
記事番号17288
ジャーナルScientific reports
9
発行部数1
DOI
出版物ステータスPublished - 01-12-2019

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All Science Journal Classification (ASJC) codes

  • General

これを引用

Nishii, K., Shimogawa, R., Kurita, H., Inden, M., Kobayashi, M., Toyoshima, I., Taguchi, Y., Ueda, A., Tamune, H., & Hozumi, I. (2019). Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification. Scientific reports, 9(1), [17288]. https://doi.org/10.1038/s41598-019-53401-0