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Presynaptic Dysfunction in Neurons Derived from Tay-Sachs iPSCs.

Kozo Matsushita1, Tadahiro Numakawa2, Haruki Odaka2

  • 1Department of Cell Modulation, Institute of Molecular Embryology and Genetics, Kumamoto University, Kumamoto, Japan; Department of Orthopedic Surgery, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

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|July 9, 2019
PubMed
Summary

Tay-Sachs disease (TSD) involves GM2 ganglioside accumulation, causing neurodegeneration. Patient-derived iPSCs created cellular models showing disease hallmarks like enlarged lysosomes and impaired neurotransmission, aiding future drug discovery.

Keywords:
Tay–Sachs diseaseexperimental modelinduced pluripotent stem cells

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Area of Science:

  • Neuroscience
  • Genetics
  • Cell Biology

Background:

  • Tay-Sachs disease (TSD) is a fatal neurodegenerative lysosomal storage disorder.
  • It results from deficient hexosaminidase-A (HEXA) activity, leading to GM2 ganglioside accumulation in the brain.
  • Current treatment options for TSD are limited.

Purpose of the Study:

  • To generate induced pluripotent stem cells (iPSCs) from TSD patients.
  • To establish and characterize cellular models for studying TSD pathogenesis.
  • To evaluate the utility of these models for drug screening.

Main Methods:

  • Generation of TSD-patient-derived iPSCs.
  • Neural differentiation of iPSCs into neural progenitor cells (NPCs) and neurons.
  • Analysis of lysosomal morphology, GM2 ganglioside levels, oxidative stress, and cellular function.

Main Results:

  • TSD-iPSCs exhibited normal neural differentiation potential.
  • TSD-derived NPCs showed enlarged lysosomes and LAMP1 upregulation due to GM2 ganglioside accumulation.
  • TSD-derived NPCs had increased susceptibility to oxidative stress-induced cell death.
  • TSD-derived neurons displayed reduced exocytotic activity and impaired neurotransmission.

Conclusions:

  • TSD-iPSC-derived NPCs and neurons serve as valuable cellular models for Tay-Sachs disease.
  • These models recapitulate key pathological features of TSD.
  • They offer a platform for investigating disease mechanisms and testing therapeutic interventions.