Abstract:
BACKGROUND:Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise its molecular pathology. METHODS:Two-dimensional electrophoresis and matrix-assisted laser desorption/ionisation-time of flight tandem mass spectrometry (MALDI-TOF MS) and tandem mass spectrometry (MS/MS) were done using plasma samples before and after ERT in eight patients with classical Fabry disease RESULTS: After short-term ERT (4-12 months), the levels of 15 plasma proteins involved in inflammation, oxidative and ischaemic injury, or complement activation were reduced significantly. Among them, β-actin (ACTB), inactivated complement C3b (iC3b), and C4B were elevated significantly in pre-ERT Fabry disease plasma compared with control plasma. After longer-term ERT (46-96 months), iC3b levels gradually decreased, whereas the levels of other proteins varied. The gradual reduction of iC3b was comparable to that of Gb3 levels. In addition, iC3b increased significantly in pre-ERT Fabry disease mouse plasma, and C3 deposits were notable in renal tissues of pre-enzyme replacement therapy patients. CONCLUSION:These results indicated that C3-mediated complement activation might be altered in Fabry disease and ERT might promote its stabilisation.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Heo SH,Kang E,Kim YM,Go H,Kim KY,Jung JY,Kang M,Kim GH,Kim JM,Choi IH,Choi JH,Jung SC,Desnick RJ,Yoo HW,Lee BHdoi
10.1136/jmedgenet-2017-104704subject
Has Abstractpub_date
2017-11-01 00:00:00pages
771-780issue
11eissn
0022-2593issn
1468-6244pii
jmedgenet-2017-104704journal_volume
54pub_type
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