Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy

Fabry disease (FD) is characterized by the progressive accumulation of globotriaosylceramide (Gb3). Enzyme replacement therapy (ERT) clears this accumulation. We analyzed plasma proteome profiles before and after ERT to characterize its molecular pathology. After ERT, the levels of proteins involved in inflammation, oxidative and ischemic injury, or complement activation were reduced significantly. In particular, we found out that inactivated complement C3b (iC3b) was significantly elevated in pre-ERT FD plasma and it gradually decreased along ERT, comparable to the changes of Gb3.Our study indicates that C3-mediated complement activation might be altered in FD and ERT might promote its stabilization. (By Dr. Beom Hee Lee, http://jmg.bmj.com/content/early/2017/08/23/jmedgenet-2017-104704 )