The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3

Dis Model Mech. 2009 Jan-Feb;2(1-2):84-92. doi: 10.1242/dmm.000851. Epub 2008 Dec 22.

Abstract

The function of the CLN3 protein, which is mutated in patients with the neurodegenerative lysosomal storage disorder Batten disease, has remained elusive since it was identified 13 years ago. Here, we exploited the Schizosaccharomyces pombe model to gain new insights into CLN3 function. We modelled all missense mutations of CLN3 in the orthologous protein Btn1p, as well as a series of targeted mutations, and assessed trafficking and the ability of the mutant proteins to rescue four distinct phenotypes of btn1Delta cells. Mutating the C-terminal cysteine residues of Btn1p caused it to be internalised into the vacuole, providing further evidence that this protein functions from pre-vacuole compartments. Mutations in the lumenal regions of the multi-spanning membrane protein, especially in the third lumenal domain which contains a predicted amphipathic helix, had the most significant impact on Btn1p function, indicating that these domains of CLN3 are functionally important. Only one mutant protein was able to rescue the cell curving phenotype (p.Glu295Lys), and since this mutation is associated with a very protracted disease progression, this phenotype could be used to predict the disease severity of novel mutations in CLN3. The ability to predict disease phenotypes in S. pombe confirms this yeast as an invaluable tool to understanding Batten disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Disease Progression
  • Fungal Proteins / genetics*
  • Gene Expression Regulation, Fungal
  • Genetic Markers
  • Genetic Techniques
  • Humans
  • Lysosomal Storage Diseases / genetics*
  • Lysosomal Storage Diseases / physiopathology
  • Membrane Proteins / genetics*
  • Models, Biological
  • Mutation*
  • Mutation, Missense*
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Neuronal Ceroid-Lipofuscinoses / physiopathology
  • Phenotype
  • Protein Structure, Tertiary
  • Schizosaccharomyces / genetics*
  • Schizosaccharomyces pombe Proteins / genetics*

Substances

  • BTN1 protein, S pombe
  • Fungal Proteins
  • Genetic Markers
  • Membrane Proteins
  • Schizosaccharomyces pombe Proteins