Correlation between GNMT and miR-873-5p in human cholestasis and cirrhosis together with miR-873-5p inhibition in vivo in different mouse models of liver cholestasis and fibrosis [bile duct ligation and Mdr2 (Abcb4)<sup>-/-</sup> mouse] were then assessed.
Sequencing of genes encoding for hepatic transporters for bile acid homeostasis (BSEP, MDR3, and FIC1) found no genetic variants typically associated with hereditary cholestasis syndromes.
Mutational analysis of ABCB4 in patients and their families should be considered in all individuals with cholestasis of unknown aetiology, regardless of age and/or time of onset of the first symptoms.
Bland canalicular cholestasis is the prototypic change but it is now clear that some gene mutations, particularly in ABCB4 (encoding MDR3), can cause other patterns that include early cholesterol calculus formation, bile duct injury and disappearance, ductular reactions mimicking large duct obstruction and, in rare cases, progressive fibrosis.