Abstract:
:Gaucher disease (GD) is a rare inherited metabolic disease caused by pathogenic variants in the GBA1 gene. So far, the pathomechanism of GD was investigated mainly in animal models. In order to delineate the molecular changes in GD cells we analysed gene expression profile in cultured skin fibroblasts from GD patients, control individuals and, additionally, patients with Niemann-Pick type C disease (NPC). We used expression microarrays with subsequent validation by qRT-PCR method. In the comparison GD patients vs. controls, the most pronounced relative fold change (rFC) in expression was observed for genes IL13RA2 and IFI6 (up-regulated) and ATOH8 and CRISPLD2 (down-regulated). Products of up-regulated and down-regulated genes were both enriched in genes associated with immune response. In addition, products of down-regulated genes were associated with cell-to-cell and cell-to-matrix interactions, matrix remodelling, PI3K-Akt signalling pathway and a neuronal survival pathway. Up-regulation of PLAU, IFIT1, TMEM158 and down-regulation of ATOH8 and ISLR distinguished GD patients from both NPC patients and healthy controls. Our results emphasize the inflammatory character of changes occurring in human GD cells indicating that further studies on novel therapeutics for GD should consider anti-inflammatory agents.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Ługowska A,Hetmańczyk-Sawicka K,Iwanicka-Nowicka R,Fogtman A,Cieśla J,Purzycka-Olewiecka JK,Sitarska D,Płoski R,Filocamo M,Lualdi S,Bednarska-Makaruk M,Koblowska Mdoi
10.1038/s41598-019-42584-1subject
Has Abstractpub_date
2019-04-15 00:00:00pages
6060issue
1issn
2045-2322pii
10.1038/s41598-019-42584-1journal_volume
9pub_type
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