Stem Cell Applications in Lysosomal Storage Disorders: Progress and Ongoing Challenges.

Köse S., Aerts-Kaya F. S. F., Uçkan Çetinkaya D., Korkusuz P.

Advances in experimental medicine and biology, vol.1347, pp.135-162, 2021 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 1347
  • Publication Date: 2021
  • Doi Number: 10.1007/5584_2021_639
  • Journal Name: Advances in experimental medicine and biology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.135-162
  • Keywords: Lysosomal storage disorder, Lysosomal storage disease, Stem cell, Hematopoietic stem cell, Mesenchymal stem cell, Neural stem cell, Induced pluripotent stem cell, Gene therapy, BONE-MARROW-TRANSPLANTATION, CORD BLOOD TRANSPLANTATION, SPHINGOMYELINASE-DEFICIENT MICE, MUCOPOLYSACCHARIDOSIS TYPE-VII, SUBSTRATE-REDUCTION THERAPY, MESENCHYMAL STROMAL CELLS, HEMATOPOIETIC STEM, GENE-THERAPY, POMPE DISEASE, MOUSE MODEL
  • Hacettepe University Affiliated: Yes


Lysosomal storage disorders (LSDs) are rare inborn errors of metabolism caused by defects in lysosomal function. These diseases are characterized by accumulation of completely or partially degraded substrates in the lysosomes leading to cellular dysfunction of the affected cells. Currently, enzyme replacement therapies (ERTs), treatments directed at substrate reduction (SRT), and hematopoietic stem cell (HSC) transplantation are the only treatment options for LSDs, and the effects of these treatments depend strongly on the type of LSD and the time of initiation of treatment. However, some of the LSDs still lack a durable and curative treatment. Therefore, a variety of novel treatments for LSD patients has been developed in the past few years. However, despite significant progress, the efficacy of some of these treatments remains limited because these therapies are often initiated after irreversible organ damage has occurred.