Fibroblast defect in pseudohypoparathyroidism, type i: Reduced activity of receptor-cyclase coupling protein

Henry R. Bourne, Harvey R. Kaslow, Arnold S. Brickman, Zvi Farfel

Research output: Contribution to journalArticlepeer-review

Abstract

Erythrocytes of many patients with pseudohypoparathyroidism, type I (PHP-I), exhibit reduced activity ofthe N protein, a guanine nucleotide-binding regulatory component of hormone-sensitive adenylate cyclase. We compared N and adenylate cyclase activities and the accumulation of cAMP in fibroblasts propagated from skin biopsies of six normal subjects and seven PHP-I patients. N activities were reduced by approximately 40% in fibroblasts as well as erythrocytes of five PHP-I patients. N activities in fibroblasts from two PHP-I patients with normal erythrocyte N activities were within the normal range. These results are consistent with the hypothesis that N deficiency is generalized in tissues of most PHP-I patients and is the primary defect responsible for their resistance to metabolic effects of hormones that workby stimulating adenylate cyclase. Fibroblast N deficiency was not associated with decreases in hormone-stimulated adenylate cyclase or cAMP accumulation in fibroblasts, probably because these activities involve many potentially regulable cellular components in addition to the N protein.

Original languageEnglish
Pages (from-to)636-640
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume53
Issue number3
DOIs
StatePublished - Sep 1981

Fingerprint

Dive into the research topics of 'Fibroblast defect in pseudohypoparathyroidism, type i: Reduced activity of receptor-cyclase coupling protein'. Together they form a unique fingerprint.

Cite this