Reports from Institut fur Laboratoriums- und Transfusionsmedizin Add New Study Findings to Research in Biomedicine (Xylosyltransferase-Deficiency in Human Dermal Fibroblasts Induces Compensatory Myofibroblast Differentiation and Long-Term ECM...).

A recent study conducted by researchers at the Institut fur Laboratoriums- und Transfusionsmedizin in Germany focused on two genetic disorders, Desbuquois dysplasia type 2 (DBQD2) and spondylo-ocular syndrome (SOS), which affect the extracellular matrix (ECM) and are categorized as glycosaminoglycan (GAG) linkeropathies. The researchers successfully created model systems of XYLT1 and XYLT2 deficiency in human dermal fibroblasts using CRISPR/Cas9 technology. They found that the deficiency of xylosyltransferase (XT) isoforms led to a reduction in all linker transferase-encoding genes, suggesting a potential multienzyme complex with mutual regulation. The study also revealed isoform-specific regulatory differences in response to XYLT deficiency. [Extracted from the article]