Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus.

[triple a syndrome]

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 .The present study was aimed at identifying possible AAAS gene mutations in patients with established idiopathic non-familial achalasia .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 .Four heterozygous nucleotidic variations have been identified in patients with idiopathic achalasia , among which three were exonic conservative polymorphisms [i .e . D 138 D (GAT-->GAC ), L 227 L (TTG-->CTG ) and F 2 85 F (TTC-->TTT ) in exons 5 , 7 and 9 , respectively ]. The fourth nucleotidic variation was located in intron 13 (IVS 14 -23 delT ). 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 .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 .