ECE2010 Poster Presentations Developmental endocrinology (11 abstracts)
Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: consideration of pancreas differentiation
Masayuki Itoh 1 , Shin Okazaki 2 , Rie Miyata 3 , Takeshi Inoue 2 , Takumi Akashi 4 , Masaharu Hayashi 3 & Yuichi Goto 1
1National Center of Neurology and Pschiatry, Kodaira, Japan; 2Osaka City General Hospital, Osaka, Japan; 3Tokyo Metropolitan Institute of Neuroscience, Fuchu, Japan; 4Tokyo Medical and Dental University, Tokyo, Japan.
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 pathology of XLAG has 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, Pdx1, 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.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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