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Diseases 2016, 4(4), 35;

Integrative Systems Biology Investigation of Fabry Disease

Institute of Cardiovascular and Medical Sciences, BHF Glasgow Cardiovascular Research Centre, University of Glasgow, 126 University Place, Glasgow, G12 8TA, UK
Author to whom correspondence should be addressed.
Academic Editor: Jose A. Sanchez-Alcazar
Received: 1 September 2016 / Revised: 2 November 2016 / Accepted: 10 November 2016 / Published: 15 November 2016
(This article belongs to the Collection Lysosomal Storage Diseases)
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Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3). We performed a meta-analysis of peer-reviewed publications including high-throughput omics technologies including naïve patients and those undergoing enzyme replacement therapy (ERT). This study describes FD on a systems level using a systems biology approach, in which molecular data sourced from multi-omics studies is extracted from the literature and integrated as a whole in order to reveal the biochemical processes and molecular pathways potentially affected by the dysregulation of differentially expressed molecules. In this way new insights are provided that describe the pathophysiology of this rare disease. Using gene ontology and pathway term clustering, FD displays the involvement of major biological processes such as the acute inflammatory response, regulation of wound healing, extracellular matrix (ECM) remodelling, regulation of peptidase activity, and cellular response to reactive oxygen species (ROS). Differential expression of acute-phase response proteins in the groups of naïve (up-regulation of ORM1, ORM2, ITIH4, SERPINA3 and FGA) and ERT (down-regulation of FGA, ORM1 and ORM2) patients could be potential hallmarks for distinction of these two patient groups. View Full-Text
Keywords: Anderson-Fabry Disease; omics; data integration; disease modelling Anderson-Fabry Disease; omics; data integration; disease modelling

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Fernandes, M.; Husi, H. Integrative Systems Biology Investigation of Fabry Disease. Diseases 2016, 4, 35.

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