From fish embryos to human patients: lymphangiogenesis in development and disease

Abstract

The lymphatic vasculature plays vital roles in immune surveillance, fluid homeostasis and fat absorption in the body. Lined by endothelial cells, the lymphatic system is functionally distinct from the blood vasculature, and fulfills different physiological functions. In recent years, insight from zebrafish, mice and human patients have improved our understanding of lymphatics, and the interplay between zebrafish genetics, studies in mice and GWAS analysis in human patients have identified genes that, when mutated, will lead to lymphedema formation. Here, we focus on components of the Vegfr3 pathway, and how they are connected to Milroy disease and Hennekam syndrome.