Mutations in the gene are associated with striated muscle diseases such as cardiomyopathy and muscular dystrophy.
Filling in the unknowns about a previously unexplored gene is a good way to get the attention of your peers. Heart Institute scientist Patrick Burgon is doing just that with a gene he calls MLIP. The MLIP protein is found in the nucleus of cardiac cells and is important in the development of the adult heart. Mutations in the gene are associated with striated muscle diseases such as cardiomyopathy and muscular dystrophy.
With his abstract named as one of the Top Five from Canada, Burgon was invited to present at the International Lunch Forum about the development of his career. Originally from Australia, where he earned his PhD in reproductive physiology, Burgon did his post-doctoral work at Harvard University before coming to the Heart Institute. Having lost two supervisors at Harvard to unexpected deaths, he indicated his appreciation for the support of the Institute, both materially and for the mentorship that has fostered his work.
Later during the conference, Burgon explained that MLIP targets many genes in the heart that are important in development. His group has now created a mouse model that carries only one copy of the gene. The result is severe dilated cardiomyopathy, an absence of abdominal fat and changes in hind limb muscle. A variety of studies are under way to learn more about MLIP and its function.