Mutations of signal-transducing G proteins in human disease.
Heterotrimeric guanine nucleotide binding proteins (G proteins) couple a large number of cell surface receptors to their intracellular effector molecules, such as enzymes or ion channels. Mutations of G proteins can lead to either activation or inactivation of the corresponding signal transduction pathway and thus cause clinical symptoms. Mutations of heterotrimeric G proteins have been found in a number of endocrine tumors, the McCune-Albright syndrome, Albright's hereditary osteodystrophy, and a combination of precocious puberty and pseudohypoparathyroidism Ia. The identification of the molecular defects underlying the above disorders and the investigation of their functional consequences for metabolism and growth regulation have been the subject of many studies over the past few years. A close understanding of these pathophysiologic mechanisms is crucial for the development of therapeutic strategies.
Schnabel
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P
Klinik III für Innere Medizin, Köln, Germany.
Böhm
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M
D000595:Amino Acid Sequence; D001483:Base Sequence; D004701:Endocrine Gland Neoplasms / Q000209:etiology / Q000235:genetics*; D005359:Fibrous Dysplasia, Polyostotic / Q000209:etiology / Q000235:genetics*; D019204:GTP-Binding Proteins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D011547:Pseudohypoparathyroidism / Q000145:classification / Q000209:etiology / Q000235:genetics*; D011629:Puberty, Precocious / Q000209:etiology / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics*
D019204:GTP-Binding Proteins