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• W2000406300 abstract "Introduction: Farnesoid X receptor (FXR) is a transcription factor that controls bile acids homeostasis by regulating the expression of genes involved in their synthesis and transport. FXR knock-out mice exhibit a phenotype similar to Progressive Familial Intrahepatic Cholestasis (PFIC), a group of inherited disorders in which intrahepatic cholestasis presents in infancy and leads to end-stage liver disease. PFIC type 1 is associated to mutations in FIC1 gene, which encodes a putative aminophospholipid transferase expressed in a wide range of tissues. To date, it remains unclear how dysfunction of this protein causes cholestasis. In this context, we have investigated FXR expression in liver samples from children with this disorder. Methods: Genomic DNA was isolated from blood of patients with PFIC. RNA was extracted from liver samples obtained after organ transplantation. Point mutations in FIC1 gene were detected by SSCP and direct sequencing. Hepatic expression of FXR, FIC1, bile salt export pump (BSEP) and MDR3 was assessed by real-time PCR. Gene expression profiles were determined by microarray analysis. Results: We studied a gipsy family in which the parents are first cousins and three of the five chidren presented PFIC phenotype and underwent liver transplantation. The affected individuals presented also clinical complications after transplantation, such as chronic diarrhea and liver steatosis. Genetic analysis revealed that the three children were compound heterozygous who inherited two different mutations in FIC1 gene. Comparative analysis of transporter gene expression was then performed by using liver samples from one of these PFIC1 patients, as well as from PFIC2 and PFIC3 patients and normal tissue. No differences in FIC1 mRNA expression were observed but, unexpectedly, a 4-fold reduction in the expression of BSEP, whose deficiency leads to PFIC2, was detected only in the patient with PFIC1. Since BSEP expression strictly depends on FXR, we next examined mRNA levels of this factor and observed a similar decrease only in PFIC1 patient. Additional gene-profiling assays identified 163 transcripts whose expression changed specifically in the PFIC1 patient. Notably, several genes involved in synthesis, conjugation and transport of bile acids were found to be downregulated. A cluster of genes involved in cholesterol metabolism was also found to be differentially expressed in this patient. This picture ressembles that one collectivelly reported for FXR null mice. Conclusion: Our findings suggest a primary role of the nuclear bile salt receptor FXR in the pathogenesis of PFIC1 and in the occurrence of postransplant manifestations." @default.
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• W2000406300 date "2004-06-01" @default.
• W2000406300 modified "2023-09-27" @default.
• W2000406300 title "P0033 PP REDUCED EXPRESSION OF FARNESOID X RECEPTOR IN PATIENTS WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 1" @default.
• W2000406300 doi "https://doi.org/10.1097/00005176-200406001-00157" @default.
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