Aida K, Tawata M, Onaya T
Third Department of Internal Medicine, Yamanashi Medical University.
Nihon Rinsho. 1999 Mar;57(3):746-55.
The cloning of a G protein-coupled, extracellular calcium-sensing receptor (CaSR) provided direct evidence that Ca(2+)-sensing can occur through receptor-mediated activation of G proteins and their associated downstream regulators of cellular function. CaSR transcripts and protein are present in various tissues that are involved in Ca2+ homeostasis and that do not have well-established roles in Ca balance as well. The physiological relevance of the CaSR has been established by identifying inherited hyper-and hypocalcemia disorders resulting from CaSR mutations: familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism result from inactivating CaSR mutations while autosomal dominant hypocalcemia is caused by activating mutations. CaSR may also play a role in water metabolism. Calcimimetics that activate CaSR are undergoing clinical trials and might prove effective in manipulation of serum calcium concentration and urinary calcium excretion through CaSR activities.
G蛋白偶联的细胞外钙敏感受体（CaSR）的克隆提供了直接证据，表明钙传感可通过受体介导的G蛋白激活及其相关的细胞功能下游调节因子来实现。CaSR转录本和蛋白存在于参与钙稳态的各种组织中，这些组织在钙平衡方面也没有明确确立的作用。通过鉴定由CaSR突变导致的遗传性高钙血症和低钙血症疾病，已确立了CaSR的生理相关性：家族性低钙血症性高钙血症和新生儿重症甲状旁腺功能亢进是由CaSR失活突变引起的，而常染色体显性低钙血症则由激活突变导致。CaSR可能在水代谢中也发挥作用。激活CaSR的拟钙剂正在进行临床试验，可能通过CaSR的活性在控制血清钙浓度和尿钙排泄方面证明有效。
