You don't need to be signed in to read BMJ Blogs, but you can register here to receive updates about other BMJ products and services via our site.

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

24 Aug, 17 | by hqqu

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 )

By submitting your comment you agree to adhere to these terms and conditions
You can follow any responses to this entry through the RSS 2.0 feed.
JMG blog homepage

JMG Contact

Research developments and evidence-based medical genetics. Visit site



Creative Comms logo

Latest from Journal of Medical Genetics

Latest from Journal of Medical Genetics