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Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification.
Nishii, Kazuya; Shimogawa, Ritsuko; Kurita, Hisaka; Inden, Masatoshi; Kobayashi, Michio; Toyoshima, Itaru; Taguchi, Yoshiharu; Ueda, Akihiro; Tamune, Hidetaka; Hozumi, Isao.
Afiliación
  • Nishii K; Laboratory of Medical Therapeutics and Molecular Therapeutics, Gifu Pharmaceutical University, Gifu, Japan.
  • Shimogawa R; Laboratory of Medical Therapeutics and Molecular Therapeutics, Gifu Pharmaceutical University, Gifu, Japan.
  • Kurita H; Laboratory of Medical Therapeutics and Molecular Therapeutics, Gifu Pharmaceutical University, Gifu, Japan.
  • Inden M; Laboratory of Medical Therapeutics and Molecular Therapeutics, Gifu Pharmaceutical University, Gifu, Japan.
  • Kobayashi M; Department of Neurology, National Hospital Organization Akita National Hospital, Akita, Japan.
  • Toyoshima I; Department of Neurology, National Hospital Organization Akita National Hospital, Akita, Japan.
  • Taguchi Y; Department of Neurology, Toyama University Hospital, Toyama, Japan.
  • Ueda A; Department of Neurology, Fujita Health University, Aichi, Japan.
  • Tamune H; Department of Neuropsychiatry, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan.
  • Hozumi I; Laboratory of Medical Therapeutics and Molecular Therapeutics, Gifu Pharmaceutical University, Gifu, Japan. hozumi@gifu-pu.ac.jp.
Sci Rep ; 9(1): 17288, 2019 11 21.
Article en En | MEDLINE | ID: mdl-31754123
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfatos / Ganglios Basales / Enfermedades de los Ganglios Basales / Calcinosis / Enfermedades Neurodegenerativas / Proteínas Cotransportadoras de Sodio-Fosfato de Tipo III Límite: Adult / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Sci Rep Año: 2019 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfatos / Ganglios Basales / Enfermedades de los Ganglios Basales / Calcinosis / Enfermedades Neurodegenerativas / Proteínas Cotransportadoras de Sodio-Fosfato de Tipo III Límite: Adult / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Sci Rep Año: 2019 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido