G protein defects in signal transduction

Research output: Contribution to journalArticle

35 Scopus citations

Abstract

G proteins couple receptors for many hormones to effectors that regulate second messenger metabolism. Several endocrine disorders have been shown to be caused by either loss- or gain-of-function mutations in G proteins or G protein-coupled receptors. In pseudohypoparathyroidism type Ia (PHP Ia), there are generalized hormone resistance (parathyroid hormone [PTH], thyroid- stimulating hormone, gonadotropins) and associated abnormal physical features, Albright hereditary osteodystrophy. Subjects with PHP Ib are normal in appearance and show renal resistance to PTH. In McCune-Albright syndrome (MAS), subjects show autonomous endocrine hyperfunction associated with fibrous dysplasia of bone and skin hyperpigmentation. Germline loss-of- function mutations have been identified in the G(s)-α gene in PHP Ia, and recent evidence suggests that the G(s)-α gene is paternally imprinted in a tissue-specific manner. Abnormal imprinting of the G(s)-α gene may be the cause of PHP Ib. MAS, in contrast, is caused by gain-of-function missense mutations of the G(s)-α gene. Copyright (C) 2000 S. Karger AG, Basel.

Original languageEnglish (US)
Pages (from-to)17-22
Number of pages6
JournalHormone Research
Volume53
Issue numberSUPPL. 3
DOIs
StatePublished - 2000

Keywords

  • G proteins
  • McCune-Albright syndrome
  • Mutations
  • Pseudohypoparathyroidism
  • Receptors

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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