Document Detail


Chapter 5 the molecular basis of adrenocorticotrophin resistance syndrome.
MedLine Citation:
PMID:  20374727     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Adrenocorticotrophin resistance syndromes comprise familial glucocorticoid deficiency (FGD) and triple A syndrome, which are rare autosomal recessive diseases with distinct clinical features and molecular etiologies. Mutations of melanocortin-2 receptor (MC2R) have been described in segregation with FGD in 25% of patients. More recently melanocortin-2 receptor accessory protein (MRAP), a small single-transmembrane domain protein, was described as an essential protein for the traffic of MC2R and its expression on the plasma membrane. About 20% of FGD patients carry homozygous mutations of MRAP. The ALADIN protein (for alacrima/achalasia/adrenal insufficiency/neurologic disorder) was identified as the molecular basis of triple A syndrome. The elucidation of the genetic basis of the ACTH resistance syndrome has contributed to the better understanding of MC2R function. However, in some patients the molecular etiology is not yet known and awaits further genetic studies.
Authors:
Lucila L K Elias; Adrianj L Clark
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Publication Detail:
Type:  Journal Article     Date:  2009-10-07
Journal Detail:
Title:  Progress in molecular biology and translational science     Volume:  88     ISSN:  1877-1173     ISO Abbreviation:  Prog Mol Biol Transl Sci     Publication Date:  2009  
Date Detail:
Created Date:  2010-04-08     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101498165     Medline TA:  Prog Mol Biol Transl Sci     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  155-71     Citation Subset:  IM    
Copyright Information:
Copyright © 2009 Elsevier Inc. All rights reserved.
Affiliation:
Department of Physiology, School of Medicine of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil.
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