Activating mutations of the calcium-sensing receptor in primary hypoparathyroidism

Hu, Jianxin and Mora, Stefano (2004) Activating mutations of the calcium-sensing receptor in primary hypoparathyroidism. Clinical cases in mineral and bone metabolism, 2 (1). pp. 109-112. ISSN 1971-3266

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Abstract

Familial hypoparathyroidism (also termed autosomal dominant hypocalcemia) is characterized by hypocalcemia, hyperphosphatemia, and relative hypercalciuria, particularly during treatment with vitamin D and calcium to correct the hypocalcemia. Serum parathyroid hormone is inappropriately suppressed. Over 30 activating missense mutations in the calcium- sensing receptor gene have been identified in familial hypoparathyroidism. Functional expression studies in vitro show that such mutations typically increase the receptor’s sensitivity to Ca2+ resulting in suppression of parathyroid hormone secretion and increased urinary calcium excretion at inappropriately low concentrations of serum Ca2+. Identification of calcium-sensing receptor gene mutations in subjects who present with hypocalcemia is important to avoid development of nephrolithiasis during treatment. Activating calcium-sensing receptor gene mutations are non-randomly distributed in the receptor protein. Study of these naturally occurring activating mutations has provided important insights into the structure and function of the receptor

Item Type:	Article
Uncontrolled Keywords:	Calcium-sensing receptor, activating mutations, familial hypoparathyroidism, autosomal dominant hypocalcemia
Subjects:	600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) > 616.7 Malattie del sistema muscoloscheletrico
Depositing User:	Danilo Dezzi
Date Deposited:	18 Apr 2014 13:08
Last Modified:	18 Apr 2014 13:08
URI:	http://eprints.bice.rm.cnr.it/id/eprint/8685

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