Journal
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
Volume 1768, Issue 4, Pages 994-1005Publisher
ELSEVIER
DOI: 10.1016/j.bbamem.2006.09.029
Keywords
GPCR mutation; human disease; nephrogenic diabetes insipidus; retinitis pigmentosa
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Funding
- NATIONAL HEART, LUNG, AND BLOOD INSTITUTE [P01HL058120] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R01GM066232] Funding Source: NIH RePORTER
- NHLBI NIH HHS [P01 HL058120] Funding Source: Medline
- NIGMS NIH HHS [R01 GM066232] Funding Source: Medline
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By virtue of their large number, widespread distribution and important roles in cell physiology and biochemistry, G-protein-coupled receptors (GPCR) play multiple important roles in clinical medicine. Here, we focus on 3 areas that subsume much of the recent work in this aspect of GPCR biology: (1) monogenic diseases of GPCR; (2) genetic variants of GPCR; and (3) clinically useful pharmacological agonists and antagonists of GPCR. Diseases involving mutations of GPCR are rare, occurring in < 1/1000 people, but disorders in which antibodies are directed against GPCR are more common. Genetic variants, especially single nucleotide polymorphisms (SNPs), show substantial heterogeneity in frequency among different GPCRs but have not been evaluated for some GPCR. Many therapeutic agonists and antagonists target GPCR and show inter-subject variability in terms of efficacy and toxicity. For most of those agents, it remains an open question whether genetic variation in primary sequence of the GPCR is an important contributor to such inter-subject variability, although this is an active area of investigation. (c) 2006 Elsevier B.V. All rights reserved.
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