J Neurogastroenterol Motil.  2011 Apr;17(2):169-173.

Genetic Evaluation of ALADIN Gene in Early-Onset Achalasia and Alacrima Patients

• Jung KW
• Yoon IJ
• Kim DH
• Chung JW
• Choi KS
• Choi KD
• Song HJ
• Lee GH
• Myung SJ
• Kim JH
• Maskey D
• Kim MJ
• Jung HY

Abstract

BACKGROUND/AIMS
ALADIN gene has been known to cause achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. A considerable proportion of achalasia patients has been known to show alacrima (decreased secretion of tear). However, the genetic mechanism between achalasia and alacrima has not been defined yet. We postulated that ALADIN gene may be involved in the occurrence of early-onset achalasia; thus, we investigated the correlation of ALADIN gene in early-onset achalasia patients.
METHODS
From 1989 to 2007, patients who were diagnosed as primary achalasia before age 35 were enrolled. All of the enrolled patients were asked for (1) blood sampling for DNA, (2) Shirmer test and (3) dysphagia questionnaires.
RESULTS
The ALADIN gene in exon 1, 2, 10, 11 and 12 from 19 patients was investigated (M:F = 12:7). The mean age of patients at diagnosis was 27 +/- 5 (15-35) years old. Eight out of 19 (42%) showed alacrima by the positive Shirmer test. In spite of thorough exam in the genetic study, there was no definite abnormal genetic finding in this study.
CONCLUSIONS
A considerable number of achalasia patients showed alacrima. Due to the limitation of this study, it is difficult to conclude that early-onset achalasia may have significant correlations with the ALADIN gene.

Keyword

AAAS protein; Esophageal achalasia; Human; Shirmer test

MeSH Terms

Deglutition Disorders
DNA
Esophageal Achalasia
Exons
Eye Diseases, Hereditary
Humans
Lacrimal Apparatus Diseases
DNA
Eye Diseases, Hereditary
Lacrimal Apparatus Diseases