Structure and function of the cystic fibrosis transmembrane conductance regulator

Morales, Marcelo M.; Capella, Marcia A. M.; Lopes, Anibal Gil

doi:10.1590/s0100-879x1999000800013

Cited by 21 publications

(23 citation statements)

References 52 publications

(50 reference statements)

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“…담즙은 처음에 간세포에서 담 세관으로 분비되고 헤링관을 통해 소 담관으로 운반되며, 더 큰 크기의 담관을 지나는 동안 재흡수와 분비의 과정을 거쳐 최종 담즙이 형성된다. 사람에서 담관계에서의 담즙분비 는 총 담즙 양의 약 40%까지 영향을 미칠 수 있다 [5,[11][12][13]18,19,20,25]. 인간의 7번 염색체에 있는 cystic fibrosis transmembrane conductance regulator (CFTR) 유전자는 1480개의 아미노산 으로 구성된 CFTR 단백질을 생산한다 [13].…”

Section: 서 론unclassified

“…인간의 7번 염색체에 있는 cystic fibrosis transmembrane conductance regulator (CFTR) 유전자는 1480개의 아미노산 으로 구성된 CFTR 단백질을 생산한다 [13]. CFTR 유전자는 폐, 고환, 기관, 신장, 소장, 대장, 췌장 및 담낭 등에서 발현된 다 [20]. CFTR 단백질은 분비성 상피세포의 첨막(apical membrane)에 위치하며, 세포내의 cAMP 증가에 의하여 활성화되 어 염소 이온을 분비한다 [5,9,18,25].…”

Section: 서 론unclassified

“…CFTR 단백질은 분비성 상피세포의 첨막(apical membrane)에 위치하며, 세포내의 cAMP 증가에 의하여 활성화되 어 염소 이온을 분비한다 [5,9,18,25]. 상염색체 열성으로 유전 되는 낭성 섬유증(Cystic fibrosis)은 CFTR의 기능 부전으로 수분이 거의 없는 점성이 높은 물질을 분비하여 기관지 확장 증, 췌부전증, 담관 폐쇄, 불임, 장 폐쇄, 비용종형성, 만성 부비 동염 등의 다양한 임상 증상을 일으키는 질병이다 [9,20,22].…”

Section: 서 론unclassified

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Expression of Anion Exchanger and CFTR in the Hepatocyte and Cholangiocytes in Bile Duct-Ligated Rat

Lee¹,

Wang²,

Ki³

et al. 2011

Journal of Life Science

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Cystic fibrosis transmembrane conductance regulator (CFTR) gene and sodium-independent Cl -/HCO3 -anion exchanger (AE) genes are expressed in a wide variety of mammalian tissues including cholangiocytes. They play an important role in the regulation of intracellular pH (pHi) as well as in transepithelial acid/base transport necessary for biliary bicarbonate secretion. The aim of this study was to examine the expression level of CFTR gene and AE genes (AE1, AE2 and AE3) in the cholangiocytes and the hepatocytes, and also measure AE2 gene expression level after bile duct ligation (BDL). As we previously described, isolated hepatocytes and cholangiocytes from the liver of normal and BDL rats were prepared and gene expression levels were measured by using RT-PCR. We found that AE1, AE2, and AE3 genes were expressed in both hepatocytes and cholangiocytes, but CFTR was only in cholangiocytes. AE2 gene expression level was higher in the BDL hepatocytes than normal hepatocytes, which was significantly different between two groups. AE2 gene expression level was lower in the BDL cholangiocytes than normal cholangiocytes. However, AE2 gene expression level in both hepatocytes and cholangiocytes were not changed with a longer duration of BDL. These results suggest that CFTR and AE2 may play an important role in the pathogenetic mechanism of biliary cholestatic liver disease.

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Section: 서 론unclassified

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Expression of Anion Exchanger and CFTR in the Hepatocyte and Cholangiocytes in Bile Duct-Ligated Rat

Lee¹,

Wang²,

Ki³

et al. 2011

Journal of Life Science

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“…CFTR is a member of the ATP binding cassette family (ABC) of integral membrane proteins composed of two transmembrane domains (TMDs) and two nucleotide binding domains (NBDs), separated by a larger regulatory domain (R) containing multiple phosphorylation sites (Riordan 1993, Foskett 1998 (Figure 1). CFTR is a 3'5'-cyclic monophosphate, (cAMP)-activated Cl − channel that modulates a series of intracellular functions by a complex process involving both phosphorilation by 3'5'-cAMP -dependent protein kinase A (PKA) and the interactions of ATP with the nucleotide-binding domain (Anderson & Welsh 1992& Morales et al 1999. Besides the chloride transport function, CFTR plays an important role in intracellular vesicular acidification (Barasch et al 1991), protein processing and traffic (Morris & Frizzell 1994), secretion of ATP (Winter et al 1994) and control of the epithelium sodium channel (ENaC), the renal secretory K + channel (ROMK-2) and the outwardly rectifying chloride channel (ORCC) (Ismailov et al 1996, McNicholas et al 1996, Sttuts et al 1995& Schwiebert et al 1995.…”

Section: Introductionmentioning

confidence: 99%

The Cystic Fibrosis Transmembrane Regulator (CFTR) in the kidney

Morales

Falkenstein

Lopes

2000

An. Acad. Bras. Ciênc.

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The cystic fibrosis transmembrane regulator (CFTR) is a Cl − channel. Mutations of this transporter lead to a defect of chloride secretion by epithelial cells causing the Cystic Fibrosis disease (CF). In spite of the high expression of CFTR in the kidney, patients with CF do not show major renal dysfunction, but it is known that both the urinary excretion of drugs and the renal capacity to concentrate and dilute urine is deficient. CFTR mRNA is expressed in all nephron segments and its protein is involved with chloride secretion in the distal tubule, and the principal cells of the cortical (CCD) and medullary (IMCD) collecting ducts. Several studies have demonstrated that CFTR does not only transport Cl − but also secretes ATP and, thus, controls other conductances such as Na + (ENaC) and K + (ROMK2) channels, especially in CCD. In the polycystic kidney the secretion of chloride through CFTR contributes to the cyst enlargement. This review is focused on the role of CFTR in the kidney and the implications of extracellular volume regulators, such as hormones, on its function and expression.

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“…Mutations in the CFTR gene may result in defective processing of its protein and alter the function and regulation of this channel. Mutations are associated with different symptoms, including pancreatic insufficiency, bile duct obstruction, infertility in males, high Cl -level in sweat, intestinal obstruction, nasal polyp formation, chronic sinusitis, mucus dehydration, and chronic Pseudomonas aeruginosa and Staphylococcus aureus lung infection, responsible for 90% of deaths in patients with CF (3).…”

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confidence: 99%