Titre du document / Document title

Molecular insights into inherited ACTH resistance syndromes

Auteur(s) / Author(s)

CLARK A. J. L. ; WEBER A. ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

St. Bartholomew's hosp. medical coll., dep. chemical endocrinology, London EC1A 7BE, ROYAUME-UNI

Résumé / Abstract

The ACTH resistance syndromes ― familial glucocorticoid deficiency (FGD) and the triple-A syndrome ― have long been postulated to result from genetic defects of the ACTH receptor. We have demonstrated a point mutation that reduced function of this receptor in FGD, and subseguently we, and others, have identified other mutations of this gene in other families with this condition. Gene linkage studies, however, show that the ACTH receptor is not associated with either a subgroup of FGD in which mutations in the ACTH receptor gene cannot be found or with the triple-A syndrome. The study of these diseases may reveal new aspects of adrenal development and function, and provide insights into the molecular mechanisms of ACTH receptor action

Revue / Journal Title

Trends in endocrinology and metabolism   ISSN 1043-2760 

Source / Source

1994, vol. 5, n^o5, pp. 209-214 (1 p.)

Langue / Language

Anglais

Editeur / Publisher

Elsevier, London, ROYAUME-UNI  (1989) (Revue)

Mots-clés anglais / English Keywords

Review ; Target tissue resistance ; ACTH ; Endocrinopathy ; Genetic disease ; Adenohypophyseal hormone ;

Mots-clés français / French Keywords

Article synthèse ; Résistance tissu cible ; ACTH ; Endocrinopathie ; Maladie héréditaire ; Hormone adénohypophysaire ;

Mots-clés espagnols / Spanish Keywords

Artículo síntesis ; Resistencia tejido blanco ; Endocrinopatía ; Enfermedad hereditaria ; Hormona adenohipofisaria ;

Localisation / Location

INIST-CNRS, Cote INIST : 22161, 35400004107570.0050