Determining the role of the gene Prpf8 in causing congenital heart defects

Determining the role of PRPF8 in cardiac development

Each day in the UK, 12 babies are diagnosed with a heart defect that happens as the baby develops in the womb, known as congenital heart disease. BHF-funded research has contributed to major improvements in the understanding and treatment of these heart defects. However, there is still a great deal of research to do before we understand exactly how the heart forms correctly, and how it goes wrong. Only when we understand this, will we have a chance of preventing heart defects in babies. Dr Kathryn Hentges and her team have identified a gene (called Prpf8) that, when faulty, causes the heart’s left and right sides to be reversed as its forming. They suspect this is due to Prpf8’s influence on tiny hair-like projections on cells, known as cilia, which are important for the embryo to develop correctly. In this project, they will further study the role of Prpf8 in heart formation and will find out what happens to the cilia when Prpf8 is no longer working. Improvements in diagnosis, prevention and treatment of congenital heart disease depend upon a greater understanding of heart development. These researchers believe that Prpf8 may have an important role and hope that this project will bring us closer to new ways to prevent and treat these serious conditions.