The Genetic and Molecular Pathogenesis of Primary Biliary Cirrhosis

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Primary biliary cirrhosis (PBC) is a chronic liver disease that affects over 1 in 5000 people in the UK. It usually affects middle-aged or older women. There is no effective treatment and many patients eventually develop cirrhosis and liver failure, for which the only treatment is liver transplantation. The cause of PBC is unknown. However, there is evidence that genetic factors are important. For example, PBC may affect more than one member of the same family. This is called familial PBC. The genes involved in causing PBC have not been clearly identified. We intend to study DNA from families in which several relatives have the disease. We will also study a laboratory mouse which develops a liver disease closely resembling PBC. By doing genetic studies of PBC families and the PBC mouse, we hope to identify genes involved in causing the disease. We will then study DNA from a large number of patients with non-familial (sporadic) PBC, to see whether the same genes are involved in causing sporadic disease. This is important because, if we identify the genes involved in causing PBC, investigators will have a better chance of finding a treatment which works.