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Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells

Wei Huang1, Yu-Shan Cheng2, Shu Yang2

  • 1National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA; Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, PR China.

Experimental Cell Research
|August 19, 2021
PubMed

Insights

Mucopolysaccharidosis type IIIB (MPS IIIB), a rare genetic lysosomal disease, lacks effective treatments. This study developed patient-derived neural stem cells to model MPS IIIB and test potential therapies.

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Mucopolysaccharidosis type IIIB (MPS IIIB) is a lysosomal storage disorder.
  • Caused by mutations in the NAGLU gene, leading to α-N-acetylglucosaminidase (NAGLU) deficiency.
  • NAGLU deficiency results in heparan sulfate accumulation and neurological deficits, with no current cure.

Purpose of the Study:

  • To establish a relevant cell-based disease model for MPS IIIB.
  • To evaluate the efficacy of potential therapeutic compounds.
  • To facilitate drug discovery and development for MPS IIIB.

Main Methods:

  • Established induced pluripotent stem cell lines from MPS IIIB patient fibroblasts.
  • Differentiated these cells into neural stem cells and neurons.
  • Assessed disease phenotypes and response to therapeutic agents (recombinant NAGLU, δ-tocopherol, 2-hydroxypropyl-β-cyclodextrin).

Main Results:

  • MPS IIIB neural stem cells exhibited NAGLU deficiency, GAG accumulation, and lysosomal abnormalities.
  • Treatments with recombinant NAGLU, δ-tocopherol, and 2-hydroxypropyl-β-cyclodextrin ameliorated disease phenotypes in vitro.
  • The developed cell model accurately reflects MPS IIIB pathology.

Conclusions:

  • MPS IIIB patient-derived neural stem cells and neurons serve as a valuable disease model.
  • This model system is suitable for drug screening and efficacy evaluation.
  • Potential therapeutic strategies were identified for MPS IIIB treatment.
Keywords:
2-Hydroxypropyl-b-cyclodextrinLysosomal storage diseaseMucopolysaccharidosis type IIIBSanfilippo syndrome BiPSC disease modelδ-tocopherol

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