Recent Insights into NCL Protein Function Using the Model Organism Dictyostelium discoideum

Cells. 2019 Feb 2;8(2):115. doi: 10.3390/cells8020115.

Abstract

The neuronal ceroid lipofuscinoses (NCLs) are a group of devastating neurological disorders that have a global distribution and affect people of all ages. Commonly known as Batten disease, this form of neurodegeneration is linked to mutations in 13 genetically distinct genes. The precise mechanisms underlying the disease are unknown, in large part due to our poor understanding of the functions of NCL proteins. The social amoeba Dictyostelium discoideum has proven to be an exceptional model organism for studying a wide range of neurological disorders, including the NCLs. The Dictyostelium genome contains homologs of 11 of the 13 NCL genes. Its life cycle, comprised of both single-cell and multicellular phases, provides an excellent system for studying the effects of NCL gene deficiency on conserved cellular and developmental processes. In this review, we highlight recent advances in NCL research using Dictyostelium as a biomedical model.

Keywords: Batten disease; CLN3; CLN5; Dictyostelium discoideum; TPP1/CLN2; development; neuronal ceroid lipofuscinosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Dictyostelium / metabolism*
  • Humans
  • Models, Biological*
  • Neuronal Ceroid-Lipofuscinoses / metabolism
  • Osmoregulation
  • Phenotype
  • Protozoan Proteins / metabolism*

Substances

  • Protozoan Proteins