Journal
DIFFERENTIATION
Volume 80, Issue 2-3, Pages 118-122Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.diff.2010.05.003
Keywords
Aristaless-related homeobox gene (ARX); Amylase-producing cell; Glucagon-producing cell; Pancreatic polypeptide-producing cell; X-linked lissencephaly with abnormal genitalia (XLAG)
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Funding
- Ministry of Health, Labor and Welfare in Japan
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Aristaless-related homeobox gene (ARX) mutation leads to several neurological disorders including X-linked lissencephaly with abnormal genitalia (XLAG), West syndrome and Partington syndrome, with XLAG being the most severe form. Although some of the brain pathologies of XLAG have already been described, the crucial extra-brain symptoms are severe growth retardation, transient hyperglycemia and intractable diarrhea. Since ARX expresses in the islets of Langerhans during the embryonic stage, these visceral phenotypes may be related to a loss of ARX function, which develops endocrine cells in the pancreas. We investigated the abnormal pancreatic development of XLAG patients with ARX-null mutation. We performed immunohistochemistry of XLAG pancreases, using the antibodies against glucagon, insulin, somatostatin, pancreatic polypeptide, ghrelin, Brn4, Nkx2.2, Mash1, amylase and pancreatic lipase. As the results, the glucagon- and pancreatic polypeptide-producing cells were found to be completely deficient in the islets of Langerhans. We also discovered marked interstitial fibrosis, small exocrine cells with loss of amylase-producing cells and an enlargement of the central lumen of the glandular acini. These pathological findings indicate that ARX contributes not only to endocrine development, but also to exocrine development of the human pancreas, and its deficiency may lead to the severe phenotypes of XLAG patients. (C) 2010 International Society of Differentiation. Published by Elsevier Ltd. All rights reserved.
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