Hormone resistance caused by mutations in G proteins and G protein- coupled receptors

Research output: Contribution to journalArticle

5 Citations (Scopus)

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. Pseudohypoparathyroidism (PHP), the first described example of a hormone resistance disorder, is characterized by renal resistance to parathyroid hormone (PTH) proximal to generation of the second messenger, cAMP. In PHP Ia there is more generalized hormone resistance (PTH, TSH, gonadotropins) and associated abnormal physical features, Albright hereditary osteodystrophy (AHO). Subjects with PHP Ib are normal in appearance and resistant exclusively to PTH. Germline loss of function mutations have been identified in the G(s)-α gene in PHP Ia, and recent evidence suggests that the Gs-α gene is paternally imprinted in a tissue- specific manner. In PHP Ib, several studies have excluded PTH receptor gene mutations, and the molecular basis has not yet been defined.

Original languageEnglish (US)
Pages (from-to)303-309
Number of pages7
JournalJournal of Pediatric Endocrinology and Metabolism
Volume12
Issue numberSUPPL. 1
StatePublished - 1999
Externally publishedYes

Fingerprint

Pseudohypoparathyroidism
G-Protein-Coupled Receptors
GTP-Binding Proteins
Hormones
Mutation
Parathyroid Hormone
Second Messenger Systems
Parathyroid Hormone Receptor Type 1
Genes
Gonadotropins
Kidney

Keywords

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

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health

Cite this

Hormone resistance caused by mutations in G proteins and G protein- coupled receptors. / Spiegel, Allen M.

In: Journal of Pediatric Endocrinology and Metabolism, Vol. 12, No. SUPPL. 1, 1999, p. 303-309.

Research output: Contribution to journalArticle

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