The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells

Haila, Siru; Saarialho–Kere, Ulpu; Karjalainen–Lindsberg, Marja-Liisa; Lohi, Hannes; Airola, Kristiina; Holmberg, Christer; Hästbacka, Johanna; Kere, Juha; Höglund, Pia

doi:10.1007/s004180000131

Cited by 57 publications

(59 citation statements)

References 24 publications

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“…Evidence suggests that this transporter should be expressed in the epithelial cell apical membrane of the human small and large intestine (114,115,126), but thus far its presence at the level of mRNA has been proven only in the rat intestine (114). The affi nity of DTDST for oxalate and its role in handling them still need confi rmation, but recent fi ndings suggest that this transporter could be responsible for the residual intestinal secretion of oxalate in CFEX KO mice (115,127,128).…”

Section: Oxalate-handling Transporters and Their Role In Hyperoxalurimentioning

confidence: 99%

Oxalate: From the Environment to Kidney Stones

Brzica

Breljak

Burckhardt

et al. 2013

Archives of Industrial Hygiene and Toxicology

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Oxalate urolithiasis (nephrolithiasis) is the most frequent type of kidney stone disease. Epidemiological research has shown that urolithiasis is approximately twice as common in men as in women, but the underlying mechanism of this sex-related prevalence is unclear. Oxalate in the organism partially originate from food (exogenous oxalate) and largely as a metabolic end-product from numerous precursors generated mainly in the liver (endogenous oxalate). Oxalate concentrations in plasma and urine can be modifi ed by various foodstuffs, which can interact in positively or negatively by affecting oxalate absorption, excretion, and/or its metabolic pathways. Oxalate is mostly removed from blood by kidneys and partially via bile and intestinal excretion. In the kidneys, after reaching certain conditions, such as high tubular concentration and damaged integrity of the tubule epithelium, oxalate can precipitate and initiate the formation of stones. Recent studies have indicated the importance of the SoLute Carrier 26 (SLC26) family of membrane transporters for handling oxalate. Two members of this family [Sulfate Anion Transporter 1 (SAT-1; SLC26A1) and Chloride/Formate EXchanger (CFEX; SLC26A6)] may contribute to oxalate transport in the intestine, liver, and kidneys. Malfunction or absence of SAT-1 or CFEX has been associated with hyperoxaluria and urolithiasis. However, numerous questions regarding their roles in oxalate transport in the respective organs and male-prevalent urolithiasis, as well as the role of sex hormones in the expression of these transporters at the level of mRNA and protein, still remain to be answered.

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Section: Oxalate-handling Transporters and Their Role In Hyperoxalurimentioning

confidence: 99%

Oxalate: From the Environment to Kidney Stones

Brzica

Breljak

Burckhardt

et al. 2013

Archives of Industrial Hygiene and Toxicology

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“…Apart from increased levels of PGE 2 and proinflammatory cytokines, evidence for dysfunction of the Na ϩ -K ϩ -ATPase and the colonic Cl Ϫ /HCO 3 Ϫ exchanger has been collected (77, 254). In that respect, it is important to note that recent studies indicate a reduced expression of the transporter DRA during intestinal inflammation (244,675). Thus a loss of transport function in the surface epithelium of the colon by attenuation of the expression of DRA or other membrane transporters may play a role in the pathogenesis of diarrhea in colitis.…”

Section: B Inflammatory Bowel Diseasesmentioning

confidence: 99%

Electrolyte Transport in the Mammalian Colon: Mechanisms and Implications for Disease

Kunzelmann

Mall

2002

Physiological Reviews

579

571

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The colonic epithelium has both absorptive and secretory functions. The transport is characterized by a net absorption of NaCl, short-chain fatty acids (SCFA), and water, allowing extrusion of a feces with very little water and salt content. In addition, the epithelium does secret mucus, bicarbonate, and KCl. Polarized distribution of transport proteins in both luminal and basolateral membranes enables efficient salt transport in both directions, probably even within an individual cell. Meanwhile, most of the participating transport proteins have been identified, and their function has been studied in detail. Absorption of NaCl is a rather steady process that is controlled by steroid hormones regulating the expression of epithelial Na+ channels (ENaC), the Na+-K+-ATPase, and additional modulating factors such as the serum- and glucocorticoid-regulated kinase SGK. Acute regulation of absorption may occur by a Na+ feedback mechanism and the cystic fibrosis transmembrane conductance regulator (CFTR). Cl− secretion in the adult colon relies on luminal CFTR, which is a cAMP-regulated Cl− channel and a regulator of other transport proteins. As a consequence, mutations in CFTR result in both impaired Cl− secretion and enhanced Na+ absorption in the colon of cystic fibrosis (CF) patients. Ca2+- and cAMP-activated basolateral K+ channels support both secretion and absorption of electrolytes and work in concert with additional regulatory proteins, which determine their functional and pharmacological profile. Knowledge of the mechanisms of electrolyte transport in the colon enables the development of new strategies for the treatment of CF and secretory diarrhea. It will also lead to a better understanding of the pathophysiological events during inflammatory bowel disease and development of colonic carcinoma.

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“…ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM). Prior to this work, preliminary information about the expression of five SLC26 members in the human male reproductive tract was available: SLC26A1 (sulphate anion transporter 1; SAT-1), SLC26A3 (down regulated in adenoma; DRA, congenital chloride diarrhea (CLD)), SLC26A4 (pendrin), SLC26A7 and SLC26A8 (testis anion transporter 1; TAT1) in the testis, and SLC26A3 in the seminal vesicle, the efferent, and the epididymal ducts (Haila et al 2000, Lacroix et al 2001, Lohi et al 2002, Regeer et al 2003. However, excluding SLC26A3 , neither systematic review of the expression profiles of these proteins in the male reproductive system nor their specific expression in certain cell types of the epididymis has been published.…”

Section: Introductionmentioning

confidence: 99%

Expression of ion transport-associated proteins in human efferent and epididymal ducts

Kujala¹,

Hihnala²,

Tienari³

et al. 2007

Reproduction

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Appropriate intraluminal microenvironment in the epididymis is essential for maturation of sperm. To clarify whether the anion transporters SLC26A2, SLC26A6, SLC26A7, and SLC26A8 might participate in generating this proper intraluminal milieu, we studied the localization of these proteins in the human efferent and the epididymal ducts by immunohistochemistry. In addition, immunohistochemistry of several SLC26-interacting proteins was performed: the Na C /H C exchanger 3 (NHE3), the Cl K channel cystic fibrosis transmembrane conductance regulator (CFTR), the proton pump V-ATPase, their regulator Na C /H C exchanger regulating factor 1 (NHERF-1), and carbonic anhydrase II (CAII). Our results show that SLC26A6, CFTR, NHE3, and NHERF-1 are co-expressed on the apical side of the nonciliated cells, and SLC26A2 appears in the cilia of the ciliated cells in the human efferent ducts. In the epididymal ducts, SLC26A6, CFTR, NHERF-1, CAII, and V-ATPase (B and E subunits) were co-localized to the apical mitochondria rich cells, while SLC26A7 was expressed in a subgroup of basal cells. SLC26A8 was not found in the structures studied. This is the first study describing the localization of SLC26A2, A6 and A7, and NHERF-1 in the efferent and the epididymal ducts. Immunolocalization of human CFTR, NHE3, CAII, and V-ATPase in these structures differs partly from previous reports from rodents. Our findings suggest roles for these proteins in male fertility, either independently or through interaction and reciprocal regulation with co-localized proteins shown to affect fertility, when disrupted. Reproduction (2007) 133 775-784

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The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells

Cited by 57 publications

References 24 publications

Oxalate: From the Environment to Kidney Stones

Oxalate: From the Environment to Kidney Stones

Electrolyte Transport in the Mammalian Colon: Mechanisms and Implications for Disease

Expression of ion transport-associated proteins in human efferent and epididymal ducts

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