A team identified a genetic abnormality linked to biliary atresia. This is the first discovery made in this sense and is thanks to an international team led by Dr. Saul J. Karpen. Thanks to this study, it will be possible to seek treatment for the disease. Biliary atresia is the leading cause of liver transplantation in children.
To date, the causes were completely unknown, which made it impossible to create a resolving therapy. Children suffering from the disease must undergo a difficult surgical procedure, which is not always sufficient. Sometimes the only solution that remains is liver transplantation, with all the associated difficulties.
The disease is very rare: large US hospitals see only a few cases per year. Furthermore, atresia is not hereditary in the usual sense of the word. According to some researchers, the gene is activated only in the presence of certain triggers, such as viruses or toxins. Despite the confusion and lack of resources, the team nevertheless collected data over the course of 15 years of study. Researchers have noted that 10% of atresia cases are related to heterotaxia, another genetic defect.
People who suffer from this condition have all their organs in an inverted position. When presented with biliary atresia, it is called BASM (biliary atresia associated with splenic malformation syndrome). The team then focused on 67 children with this form of atresia.
Thanks to total genome sequencing, mutations have emerged in the PKD1L1 gene. The gene encodes a protein produced in the bile duct cells. It is unlikely to be the cause of all cases of biliary atresia, but it is a fundamental first step to better understand this disease.