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Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia

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タイトル: Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia
著者: Nanjo, Kazuhiro 著作を一覧する
Nagai, So 著作を一覧する
Shimizu, Chikara 著作を一覧する
Tajima, Toshihiro 著作を一覧する
Kondo, Takuma 著作を一覧する
Miyoshi, Hideaki 著作を一覧する
Yoshioka, Narihito 著作を一覧する
Koike, Takao 著作を一覧する
キーワード: Calcium-sensing receptor
Familial hypocalciuric hypercalcemia
MAPK signaling pathway
発行日: 2010年 9月
出版者: Japan Endocrine Society
誌名: Endocrine journal
巻: 57
号: 9
開始ページ: 787
終了ページ: 792
出版社 DOI: 10.1507/endocrj.K10E-178
抄録: Familial hypocalciuric hypercalcemia (FHH) is a benign disorder with heterozygous inactivating mutations in the calcium-sensing receptor (CASR) gene. The present study describes the identification and functional analysis of a novel CASR gene mutation leading to FHH. The proband is a 33-yr-old woman (Ca 11.0 mg/dL, intact-PTH 68 pg/mL, FECa 0.17 %). Leukocyte DNA was isolated in four family members and a novel heterozygous mutation (D190G, GAT>GGT) in exon 4 of CASR gene was identified by direct sequence analysis. The mutant CASR expression vector was constructed by mutagenesis procedure and its response to Ca2+ was characterized by transient transfection into human embryonic kidney (HEK) 293 cells and treatment with increasing extracellular Ca2+ concentrations. HEK cells didn't activate intracellular signaling (MAPK activation) in response to increases of extracellular Ca2+ concentrations when the mutant receptor was expressed normally at the cell surface. The novel heterozygous mutation (D190G) identified in the present study showed that the reduction of activity of CASR to extracellular Ca2+ caused FHH in patients and our study demonstrated the importance of Asp-190 participated in response to Ca2+ in CASR.
資料タイプ: article
URI: http://hdl.handle.net/2115/67200
出現コレクション:雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

提供者: 小池 隆夫

 

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