Characterization of mesenchymal stem cells in mucolipidosis type II (I-cell disease)

Authors : Sevil KÖSE, Fatima AERTS KAYA, Barış KUŞKONMAZ, Duygu UÇKAN ÇETİNKAYA

Pages : 171-178

View : 19 | Download : 8

Publication Date : 2019-12-01

Article Type : Research Paper

Abstract :Mucolipidosis type II insert ignore into journalissuearticles values(ML-II, I-cell disease); is a fatal inherited lysosomal storage disease caused by a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase. A characteristic skeletal phenotype is one of the many clinical manifestations of ML-II. Since the mechanisms underlying these skeletal defects in ML-II are not completely understood, we hypothesized that a defect in osteogenic differentiation of ML-II bone marrow mesenchymal stem cells insert ignore into journalissuearticles values(BM-MSCs); might be responsible for this skeletal phenotype. Here, we assessed and characterized the cellular phenotype of BM-MSCs from a ML-II patient before insert ignore into journalissuearticles values(BBMT); and after BM transplantation insert ignore into journalissuearticles values(ABMT);, and we compared the results with BM-MSCs from a carrier and a healthy donor. Morphologically, we did not observe differences in ML-II BBMT and ABMT or carrier MSCs in terms of size or granularity. Osteogenic differentiation was not markedly affected by disease or carrier status. Adipogenic differentiation was increased in BBMT ML-II MSCs, but chondrogenic differentiation was decreased in both BBMT and ABMT ML-II MSCs. Immunophenotypically no significant differences were observed between the samples. Interestingly, the proliferative capacity of BBMT and ABMT ML-II MSCs was increased in comparison to MSCs from age-matched healthy donors. These data suggest that MSCs are not likely to cause the skeletal phenotype observed in ML-II, but they may contribute to the pathogenesis of ML-II as a result of lysosomal storage-induced pathology.
Keywords : Mucolipidosis type II, I cell disease, lysosomal storage disease, bone marrow, mesenchymal stem cells