Calcium-sensing receptor: Difference between revisions
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==Pathology== |
==Pathology== |
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Mutations that inactivate CASR cause '''familial hypocalciuric [[hypercalcemia]]''' (FHH) (also known as Familial Benign Hypercalcemia because it is generally asymptomatic and does not require treatment),<ref name="pmid15879434">{{cite journal | author = Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN | title = Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia | journal = Hum. Mol. Genet. | volume = 14 | issue = 12 | pages = 1679–90 | year = 2005 | pmid = 15879434 | doi = 10.1093/hmg/ddi176 | issn = }}</ref> whereas mutations that activate CASR are the cause of autosomal dominant [[hypocalcemia]].<ref name="pmid9719629">{{cite journal | author = Mancilla EE, De Luca F, Baron J | title = Activating mutations of the Ca<sup>2+</sup>-sensing receptor | journal = Mol. Genet. Metab. | volume = 64 | issue = 3 | pages = 198–204 | year = 1998 | pmid = 9719629 | doi = 10.1006/mgme.1998.2716 | issn = }}</ref> An [[alternative splicing|alternatively spliced]] transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined.<ref>{{cite web | title = Entrez Gene: CASR calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=846| accessdate = }}</ref> |
Mutations that inactivate CASR cause '''familial hypocalciuric [[hypercalcemia]]''' (FHH) (also known as [[Familial Benign Hypercalcemia]] because it is generally asymptomatic and does not require treatment),<ref name="pmid15879434">{{cite journal | author = Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN | title = Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia | journal = Hum. Mol. Genet. | volume = 14 | issue = 12 | pages = 1679–90 | year = 2005 | pmid = 15879434 | doi = 10.1093/hmg/ddi176 | issn = }}</ref> whereas mutations that activate CASR are the cause of autosomal dominant [[hypocalcemia]].<ref name="pmid9719629">{{cite journal | author = Mancilla EE, De Luca F, Baron J | title = Activating mutations of the Ca<sup>2+</sup>-sensing receptor | journal = Mol. Genet. Metab. | volume = 64 | issue = 3 | pages = 198–204 | year = 1998 | pmid = 9719629 | doi = 10.1006/mgme.1998.2716 | issn = }}</ref> An [[alternative splicing|alternatively spliced]] transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined.<ref>{{cite web | title = Entrez Gene: CASR calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=846| accessdate = }}</ref> |
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==Therapeutic application== |
==Therapeutic application== |
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Revision as of 14:18, 9 January 2009
The calcium-sensing receptor (CaSR) is a G-protein coupled receptor which senses extracellular levels of calcium ion. In the parathyroid gland, the calcium-sensing receptor controls calcium homeostasis by regulating the release of parathyroid hormone.[1]
Pathology
Mutations that inactivate CASR cause familial hypocalciuric hypercalcemia (FHH) (also known as Familial Benign Hypercalcemia because it is generally asymptomatic and does not require treatment),[2] whereas mutations that activate CASR are the cause of autosomal dominant hypocalcemia.[3] An alternatively spliced transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined.[4]
Therapeutic application
The drug cinacalcet is an allosteric modifier of the calcium-sensing receptor.[5]
References
- ^ D'Souza-Li L (2006). "The calcium-sensing receptor and related diseases". Arquivos brasileiros de endocrinologia e metabologia. 50 (4): 628–39. doi:10.1590/S0004-27302006000400008. PMID 17117288.
- ^ Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN (2005). "Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia". Hum. Mol. Genet. 14 (12): 1679–90. doi:10.1093/hmg/ddi176. PMID 15879434.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Mancilla EE, De Luca F, Baron J (1998). "Activating mutations of the Ca2+-sensing receptor". Mol. Genet. Metab. 64 (3): 198–204. doi:10.1006/mgme.1998.2716. PMID 9719629.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ "Entrez Gene: CASR calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)".
- ^ Torres PU (2006). "Cinacalcet HCl: a novel treatment for secondary hyperparathyroidism caused by chronic kidney disease". Journal of renal nutrition : the official journal of the Council on Renal Nutrition of the National Kidney Foundation. 16 (3): 253–8. doi:10.1053/j.jrn.2006.04.010. PMID 16825031.
Further reading
External links
- "Calcium-Sensing Receptors". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology.
{{cite web}}: Cite has empty unknown parameter:|coauthors=(help) - Receptors,+Calcium-Sensing at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- CASR+protein at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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