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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
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- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제26권 제1호
- 발행연도
- 2021.1
- 수록면
- 24 - 30 (7page)
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Purpose: Autosomal dominant hypocalcemia with hypercalciuria is a genetic disease characterized by hypoparathyroidism with hypercalciuria. We discovered a novel variant (p.Tyr825Phe[Y825F]) of the CASR gene in a neonate with congenital hypoparathyroidism and hypercalciuria and conducted a cell function study to determine whether the CASR-Y825F variant was pathogenic. Methods: To perform a functional study on CaSR-Y825F, we constructed expression vectors expressing wild-type (WT) CASR and CASR-Y825F. After transfection of each expression vector into HEK293 cells, we examined alterations in intracellular signaling. Mitogen-activated protein kinase (MAPK) signaling activity of HEK293 cells expressing CASR-WT or CASR-Y825F was determined. Changes in intracellular calcium ions ([Ca2+]i) by extracellular calcium ion ([Ca2+]e) stimulation were quantitatively compared and analyzed. Results: Cells expressing CASR-Y825F showed elevated of MAPK signaling (phospho-ERK [pERK], phospho-JNK [pJNK], phospho-p38 [pp38]) and increased [Ca2+]i levels at low [Ca2+]e stimulation compared with cells expressing CASR-WT. Additionally, [Ca2+]i levels in HEK293 cells expression CASR-WT and CASR-Y825F were determined at 340 nm/380 nm wavelength ratios using Fura-2 AM. At [Ca2+]e concentrations of 2.5 mM and 3 mM, the ratios of CASR-Y825F cells were higher (2.6 and 3.5, respectively) than those of CASR-WT cells (1.04 and 1.40, respectively). Conclusion: This cell function study proved that the CASR-Y825F expressed in HEK293 cells elevated MAPK signaling (pERK, pJNK, pp38) and increased [Ca2+]i to induce hypocalcemia.
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참고문헌 (28)
참고문헌 신청
Pollak MR / 1994 / Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation / Nat Genet 83:303~307
D'Souza-Li L / 2002 / Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia / J Clin Endocrinol Metab 87:1309~1318
Janicic N / 1995 / Mapping of the calcium-sensing receptor gene(CASR)to human chromosome 3q13. 3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16 / Mamm Genome 6:798~801
최근희 / 2015 / Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C / Clinical and Experimental Pediatrics 58(4):148~153
Jianxin Hu / 2007 / Spiegel. Structure and function of the human calcium-sensing receptor : insights from natural and engineered mutations and allosteric modulators / J Cell Mol Med 11:908~922
D'Souza-Li L / 2002 / Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia / J Clin Endocrinol Metab 87:1309~1318
Janicic N / 1995 / Mapping of the calcium-sensing receptor gene(CASR)to human chromosome 3q13. 3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16 / Mamm Genome 6:798~801
최근희 / 2015 / Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C / Clinical and Experimental Pediatrics 58(4):148~153
Jianxin Hu / 2007 / Spiegel. Structure and function of the human calcium-sensing receptor : insights from natural and engineered mutations and allosteric modulators / J Cell Mol Med 11:908~922
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