Katarzyna Hetmańczyk-Sawicka, Roksana Iwanicka-Nowicka, Anna Fogtman, Jarosław Cieśla, Paweł Włodarski, Barbara Żyżyńska-Granica, Mirella Filocamo, Andrea Dardis, Paolo Peruzzo, Małgorzata Bednarska-Makaruk, Marta Koblowska, Agnieszka Ługowska
Changes in gene expression profiles were investigated in 23 patients with Niemann-Pick C1 disease (NPC). cDNA expression microarrays with subsequent validation by qRT-PCR were used. Comparison of NPC to control samples revealed upregulation of genes involved in inflammation (MMP3, THBS4), cytokine signalling (MMP3), extracellular matrix degradation (MMP3, CTSK), autophagy and apoptosis (CTSK, GPNMB, PTGIS), immune response (AKR1C3, RCAN2, PTGIS) and processes of neuronal development (RCAN2). Downregulated genes were associated with cytoskeletal signalling (ACTG2, CNN1); inflammation and oxidative stress (CNN1); inhibition of cell proliferation, migration and differentiation; ERK-MAPK pathway (COL4A1, COL4A2, CPA4); cell adhesion (IGFBP7); autophagy and apoptosis (CDH2, IGFBP7, COL4A2); neuronal function and development (CSRP1); and extracellular matrix stability (PLOD2)...
April 2020: Neurogenetics