A molecular signature for biliary atresia classifies samples into inflammation or fibrosis stages at diagnosis and will be valuable for personalized clinical management of this disease, according to research recently published in Genome Medicine.
Biliary atresia is a blockage or absence of the bile duct usually diagnosed soon after birth. The cause of this condition is not well understood, but the management of the resulting liver fibrosis is well-studied due to its importance for prognosis. In their study ‘Staging of biliary atresia at diagnosis by molecular profiling of the liver‘, Jorge Bezerra and colleagues asked whether liver gene expression levels at diagnosis could be used to predict disease severity, the response to surgical reconstruction of the bile duct (portoenterostomy), and survival at 2 years of age.
Differential profiling of liver biopsies showed that a unique molecular signature was associated with each of the histological features of inflammation and fibrosis, and that this signature could be used to classify otherwise ambiguous biopsies into one of the two groups. This signature may relate to the stage of disease at the time of diagnosis, and infants classified with the fibrosis signature (possibly indicating a more advanced stage of disease) had decreased transplant-free survival. This information may be valuable for clinical management and personalised therapy for this rare congenital condition.