Search for: [Abstract = "Osteogenesis imperfecta \(OI\) is a genetically inherited disorder resulting from mutations in genes encoding collagen type I \(COL1A1 and COL1A2\). The most common symptoms are pronounced bone deformation, low stature. There is not a successful treatment available to date. The major goal of this dissertation was to develop a new treatment option for patients with severe forms of OI consisting of ex vivo genetic correction of autologous MSC derived from adipose tissue \(AT\-MSC\) with an AAV vector containing an inactivating cassette for collagen type I. We established a new protocol for AT\-MSC isolation, with liberase 3 as the most effective enzyme. Isolated cells displayed similar characteristics to BM\-MSC, in terms of gene expression level, surface antigen profile, except of molecule CD106 present only on BM\-MSC and ability to differentiate into osteogenic lineage. We obtained stably transduced AT\-MSC over\-expressing CXCR4 or GFP marker. We showed, that AT\-MSC\-CXCR4\+ cells displayed higher motility, stronger migration and invasiveness toward SDF\-1 gradient, in comparison to control. When tested in vivo, AT\-MSC\-CXCR4\+ engrafted in a higher percentage into bone marrow of NOD\/SCID mice, after systemic transplantation. We also constructed an AAV\-COL1A1\-inactivating vector containing also cDNA for CXCR4 gene and we tested this vector in vitro on AT\-MSC. Our study demonstrated that selec"]
