Document Detail

Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus.
MedLine Citation:
PMID:  15843079     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Evidence indicates that patients with familial achalasia associated with Allgrove or triple-A syndrome (i.e. alacrima, achalasia and adrenocorticotropin-resistant adrenal insufficiency with neurological impairment) have mutations of the alacrima achalasia adrenal insufficiency syndrome (AAAS) gene. AIM: The present study was aimed at identifying possible AAAS gene mutations in patients with established idiopathic non-familial achalasia. METHODS: Genomic DNA of 41 patients was isolated from peripheral blood cells using standard methods. The 16 exons of the AAAS gene (or ALADIN) were screened for mutations using the denaturing high-performance liquid chromatography method. RESULTS: Four heterozygous nucleotidic variations have been identified in patients with idiopathic achalasia, among which three were exonic conservative polymorphisms [i.e. D138D (GAT-->GAC), L227L (TTG-->CTG) and F285F (TTC-->TTT) in exons 5, 7 and 9, respectively]. The fourth nucleotidic variation was located in intron 13 (IVS14-23delT). All variants have been regarded as polymorphisms resulting in a normal ALADIN protein since they are either conservative or lying outside the consensus splice sites. CONCLUSIONS: Our data do not support a pathogenetic role for common AAAS gene mutations in patients with idiopathic achalasia as seen in Allgrove syndrome. These findings suggest the participation of different mechanisms in the pathogenesis of idiopathic achalasia.
G Di Nardo; A Tullio-Pelet; V Annese; V Stanghellini; G Barbara; A Latiano; A Andriulli; C Cremon; B Salvioli; U Volta; R Corinaldesi; S Lyonnet; R De Giorgio
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver     Volume:  37     ISSN:  1590-8658     ISO Abbreviation:  Dig Liver Dis     Publication Date:  2005 May 
Date Detail:
Created Date:  2005-04-21     Completed Date:  2005-09-01     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  100958385     Medline TA:  Dig Liver Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  312-5     Citation Subset:  IM    
Department of Internal Medicine and Gastroenterology, University of Bologna, St. Orsola-Malpighi Hospital, Via Massarenti, 9, I-40138 Bologna, Italy.
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MeSH Terms
Esophageal Achalasia / genetics*,  physiopathology
Genetic Variation
Middle Aged
Nerve Tissue Proteins
Nuclear Pore Complex Proteins
Polymorphism, Genetic
Proteins / genetics*
Reg. No./Substance:
0/AAAS protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Pore Complex Proteins; 0/Proteins

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