title: The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells.
abstract: Congenital chloride diarrhea (CLD) is an autosomal recessive disorder of intestinal electrolyte transportation caused by mutations in the anion transporter protein encoded by the down-regulated in adenoma (DRA), or CLD, gene. In this study, in situ hybridization and immunohistochemistry were performed to investigate the expression of CLD in extraintestinal normal epithelia and in intestinal inflammatory and neoplastic epithelia. The expression of the closely related anion transporter diastrophic dysplasia sulfate transporter, DTDST, was also examined and compared with that of CLD in colon. The only extraintestinal tissues showing CLD expression were eccrine sweat glands and seminal vesicles. In inflammatory bowel disease and ischemic colitis, expression of CLD mRNA in colon epithelium was similar to histologically normal colon epithelium, but the protein was found deeper in crypts, including proliferative epithelial cells. In intestinal tumors, the expression pattern of CLD was dependent on the differentiation status of the tissue studied: epithelial polyps with no or minor dysplasia showed abundant expression, whereas adenocarcinomas were negative. The DTDST gene was abundantly expressed in the upper crypt epithelium of colonic mucosa.
authors.affiliation: Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland. Siru.Haila@helsinki.fi
authors.forename: S
authors.initials: S
authors.lastname: Haila
authors.forename: U
authors.initials: U
authors.lastname: Saarialho-Kere
authors.forename: M L
authors.initials: ML
authors.lastname: Karjalainen-Lindsberg
authors.forename: H
authors.initials: H
authors.lastname: Lohi
authors.forename: K
authors.initials: K
authors.lastname: Airola
authors.forename: C
authors.initials: C
authors.lastname: Holmberg
authors.forename: J
authors.initials: J
authors.lastname: Hästbacka
authors.forename: J
authors.initials: J
authors.lastname: Kere
authors.forename: P
authors.initials: P
authors.lastname: Höglund
mesh_terms: D002712:Chlorides / Q000378:metabolism; D003106:Colon / Q000378:metabolism*; D003967:Diarrhea / Q000151:congenital / Q000235:genetics* / Q000378:metabolism*; D015870:Gene Expression; D006801:Humans; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D007249:Inflammation / Q000378:metabolism; D007413:Intestinal Mucosa / Q000378:metabolism; D008297:Male; D012669:Seminal Vesicles / Q000378:metabolism*; D013545:Sweat Glands / Q000378:metabolism*
chemical_list: D002712:Chlorides