Common Causes Of Alagille Syndrome

Jagged1 Gene

Also called the JAG1, this gene creates a protein called Jagged-1, which goes through the cellular membrane and remains inside and outside of the cell. It can connect to proteins, or ligands, from other cells, carrying their messages on to the cell’s nucleus. Jagged-1 has an extracellular part that connects to the ligand, as well as an intracellular part that receives the message from the other cell and transports it to the nucleus. When there is a mutation with JAG1, therefore mutating the protein Jagged-1, messages from one cell to another are misread. When these messages are misinterpreted or unreceived, the cell’s original function can be damaged or lost completely, which is what happens in the liver in Alagille syndrome. Because of miscommunications between cells, the bile ducts are deformed or simply not there.

Continue to learn more about what can cause Alagille syndrome.