The LICR team, together with collaborators from the UK, Japan, USA and Austria, analyzed a hereditary form of lymphedema, known as Lymphedema Distichiasis (LD), which is caused by mutations in a gene called FOXC2. The team found that the lymphatic vessels of LD patients are abnormally shaped and covered with smooth muscle cells that are usually present only on blood vessels and on larger, collecting lymphatic vessels. In addition, mutations in Foxc2 led to a lack of lymphatic valves, which prevent the reflux of lymph. This is the first study that describes a gene critical for the formation of lymphatic valves, and regulation of the interaction between lymphatic endothelial cells and vascular smooth muscle cells.
According to Professor Kari Alitalo, the senior author of the study, the insights gleaned into FOXC2 function may be applicable in the development of therapies for several disorders that affect lymphatic vessel formation. "We are currently working on approaches to stimulate the proper formation of lymphatic vessels in people who suffer from lymphedema. However, FOXC2 is produced in endothelial cells of both
Contact: Sarah L. White, Ph.D.
Ludwig Institute for Cancer Research