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Cellular models of Batten disease.

Christopher J Minnis1, Christopher D Thornton2, Lorna M FitzPatrick2

  • 1MRC Laboratory for Molecular Cell Biology, University College London, London WC1E 6BT, UK; Dept. Comparative Biomedical Sciences, Royal Veterinary College, Royal College Street, London NW1 0TU, UK.

Biochimica Et Biophysica Acta. Molecular Basis of Disease
|October 27, 2019
PubMed
Summary

Neuronal Ceroid Lipofuscinoses (NCL), or Batten disease, are neurodegenerative disorders. Cell models are crucial for understanding NCL pathogenesis and developing future therapies.

Keywords:
Batten diseaseCellular modelsCeroidNCLNeurodegenerationYeast

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Area of Science:

  • Neuroscience
  • Genetics
  • Cell Biology

Background:

  • Neuronal Ceroid Lipofuscinoses (NCL), also known as Batten disease, are a group of inherited neurodegenerative disorders.
  • Mutations in 13 genes cause NCL, characterized by lysosomal storage material accumulation and similar pathogenesis despite genetic diversity.
  • NCLs are among the most common lysosomal storage diseases, with variable onset and progression.

Purpose of the Study:

  • To review the role of cell models in understanding NCL biochemical pathways.
  • To explore how advanced cell models can further elucidate NCL pathogenesis.
  • To assess the potential of cell models as platforms for therapeutic efficacy studies.

Main Methods:

  • Utilizing unicellular models (yeast, amoeba) with gene orthologues.
  • Employing naturally occurring (sheep) and genetically engineered (mouse) animal models.
  • Differentiating patient-derived induced pluripotent stem cells (iPSCs) into neural cell types.

Main Results:

  • Cellular studies have significantly advanced the biochemical understanding of NCLs.
  • Diverse cell models, from simple to complex, have been instrumental in NCL research.
  • Patient-derived iPSCs offer a powerful tool for studying disease mechanisms in affected neural cells.

Conclusions:

  • Cell models have been pivotal in unraveling the biochemical underpinnings of NCLs.
  • Complex cellular models, including iPSCs, are essential for advancing NCL research.
  • Future therapeutic strategies for Batten disease may be developed and tested using these advanced cell models.