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

Kose S., Aerts Kaya F. S. F., Kuskonmaz B. B., Uckan Cetinkaya D.

TURKISH JOURNAL OF BIOLOGY, vol.43, no.3, pp.171-178, 2019 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 43 Issue: 3
  • Publication Date: 2019
  • Doi Number: 10.3906/biy-1902-20
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.171-178
  • Hacettepe University Affiliated: Yes


Mucolipidosis type II (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 (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 (BBMT) and after BM transplantation (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. Ostcogenic 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. Immunophcnotypically no significant differences were observed between the samples. Interestingly, the proliferative capacity of BBMT and ABMT M L-II MSCs was increased in comparison to MSCs from age-matched healthy donors. These data suggest that MSCs arc not likely to cause the skeletal phenotype observed in ML-II, but they may contribute to the pathogenesis of MI-II as a result of lysosomal storage-induced pathology.