Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy

The Journal of Clinical Endocrinology and Metabolism
J L Patten, M A Levine

Abstract

Albright's hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterized by an unusual phenotypic appearance and reduced biological activity of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase (Gs alpha). In most AHO patients deficient Gs alpha activity is associated with generalized target organ resistance to hormones that act via stimulation of adenylyl cyclase. This form of the disorder is termed pseudohypoparathyroidism type Ia (PHP Ia). By contrast, other patients with Gs alpha deficiency fail to demonstrate clinical evidence of hormone resistance and are considered to have the related disorder pseudopseudohypoparathyroidism (pseudoPHP). Previous studies demonstrating deficient Gs alpha bioactivity in cell membranes from patients with AHO used functional assays that were unable to distinguish between reduced amounts of normal Gs alpha protein and normal amounts of defective Gs alpha protein. In the present study we used specific Gs alpha antisera to analyze immunoactive Gs alpha protein in erythrocyte and fibroblast membranes from 20 patients with AHO who had either normal or reduced levels of Gs alpha mRNA. Cell membranes were subjected to immunoblot analysis using Gs alpha antisera dev...Continue Reading

Citations

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