Byler's disease: Fatal familial intrahepatic cholestasis in an Amish kindred

Clayton, Robert J.; Iber, Frank L.; Ruebner, Boris H.; McKusick, Victor A.

doi:10.1016/s0022-3476(65)82107-2

Cited by 170 publications

(178 citation statements)

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“…These new findings could have interesting clinical implications. Familial intrahepatic cholestasis type 1 (Fic1 disease, originally described as Byler disease) is a specific form of intrahepatic cholestasis that causes intense pruritus, fat malabsorption, variable degrees of diarrhea, and frequent progression to cirrhosis (7,30). The disease results from defects in the gene FIC1 (ATP8B1), a P-type ATPase, that may function as an aminophospholipid flippase facilitating the transfer of phosphatidylserine and phosphatidylethanolamine from the outer to the inner hemi-leaflet of cellular membranes (32).…”

Section: Discussionmentioning

confidence: 99%

Regulation of the mouse organic solute transporter α-β, Ostα-Ostβ, by bile acids

Frankenberg¹,

Rao²,

Chen³

et al. 2006

American Journal of Physiology-Gastrointestinal and Liver Physi

105

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Regulation of the mouse organic solute transporter ␣-␤, Ost␣-Ost␤, by bile acids. Am J Physiol Gastrointest Liver Physiol 290: G912-G922, 2006. First published December 15, 2005 doi:10.1152/ajpgi.00479.2005.-The mechanisms responsible for bile acid regulation of mouse intestinal organic solute transporter ␣-␤ (Ost␣-Ost␤) expression were investigated. Expression of Ost␣-Ost␤ mRNA was increased in cecum and proximal colon of cholic acid-fed mice and in chenodeoxycholatetreated mouse CT26 colon adenocarcinoma cells. Sequence analysis revealed potential cis-acting elements for farnesoid X receptor (FXR) and liver receptor homolog-1 (LRH-1) in the mouse Ost␣ and Ost␤ promoters and reporter constructs containing Ost␣ and Ost␤ 5Ј-flanking sequences were positively regulated by bile acids. Expression of a dominant-negative FXR, reduction of FXR with interfering small RNA (siRNA), or mutation of the potential FXR elements decreased Ost␣ and Ost␤ promoter activity and abolished the induction by chenodeoxycolic acid. Negative regulation of the Ost␣ and Ost␤ promoters by bile acids was mediated through LRH-1 elements. Ost␣ and Ost␤ promoter activities were increased by coexpression of LRH-1 and decreased by coexpression of SHP. Mutation of the potential LRH-1 elements and siRNA-mediated reduction of LRH-1 expression decreased basal promoter activity. As predicted from the promoter analyses, ileal Ost␣ and Ost␤ mRNA expressions were increased in wild-type mice administered the FXR agonist GW4064 and decreased in FXR-null mice. Immunoblotting analysis revealed that Ost␣ and Ost␤ intestinal protein expressions correlated with mRNA expression. The mouse Ost␣ and Ost␤ promoters are unusual in that they contain functional FXR and LRH elements, which mediate, respectively, positive and negative feedback regulation by bile acids. Although the positive regulatory pathway appears to be dominant, this arrangement provides a mechanism to finely titrate Ost␣-Ost␤ expression to the bile acid flux.

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Section: Discussionmentioning

confidence: 99%

Regulation of the mouse organic solute transporter α-β, Ostα-Ostβ, by bile acids

Frankenberg¹,

Rao²,

Chen³

et al. 2006

American Journal of Physiology-Gastrointestinal and Liver Physi

105

View full text Add to dashboard Cite

show abstract

“…1,2 The disease has been classified into three types (types 1, 2 and 3) based on the genetic defect involved in bile transport. PFIC accounts for 3-13% cases of neonatal cholestasis syndrome (NCS) and accounts for 10-15% of children requiring liver transplantation (LT).…”

Section: P Rogressive Familial Intrahepatic Cholestasis (Pfic) Ismentioning

confidence: 99%

Progressive Familial Intrahepatic Cholestasis (PFIC) in Indian Children: Clinical Spectrum and Outcome

Agarwal

Lal

Rawat

et al. 2016

Journal of Clinical and Experimental Hepatology

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“…PFIC type 1 or Byler disease often begins with episodes of cholestasis progressing to permanent cholestasis. [26][27][28] Children with PFIC are small for their age and, in addition to cholestasis and pruritus, they often have diarrhea, pancreatitis, and occasionally also hearing loss. 29 It is striking that initially in PFIC type 1 the liver remains relatively free of cholestatic toxicity.…”

Section: Pfic Type 1: Byler Diseasementioning

confidence: 99%