Jessica Addison

• BSc (Hons) Genetics
• Bicuspid aortic valve and hypoplastic aorta as a result of Pax9 gene deletion in mice.

Around 1% of babies born every year have a heart defect. We investigated the Pax9 gene, which controls development of the heart and its associated great vessels. When this gene is removed from developing transgenic mouse embryos, the heart forms incorrectly and the resulting heart defects are often fatal. This project investigated whether Pax9 deletion in transgenic mice affects aorta size, aortic valve development and origin of the coronary arteries. This research identified that Pax9 gene deletion resulted in a reduced aorta size and abnormal valves, although the coronary arteries were unaffected. Further research using this mouse model may provide information clinically relevant to human disease of the heart.

Funding source: Newcastle University