Cell cycle arrest in Batten disease lymphoblast cells

Gene. 2013 May 1;519(2):245-50. doi: 10.1016/j.gene.2013.02.022. Epub 2013 Feb 28.

Abstract

Batten disease is an inherited neurodegenerative disorder caused by a CLN3 gene mutation. Batten disease is characterized by blindness, seizures, cognitive decline, and early death. Although apoptotic cell death is one of the pathological hallmarks of Batten disease, little is known about the regulatory mechanism of apoptosis in this disease. Since the CLN3 gene is suggested to be involved in the cell cycle in a yeast model, we investigated the cell cycle profile and its regulatory factors in lymphoblast cells from Batten disease patients. We found G1/G0 cell cycle arrest in Batten disease cells, with overexpression of p21, sphingosine, glucosylceramide, and sulfatide as possible cell cycle regulators.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apoptosis
  • Blotting, Western
  • Cell Cycle Checkpoints*
  • Cell Survival
  • Cells, Cultured
  • Cyclin-Dependent Kinase Inhibitor p21 / genetics
  • Cyclin-Dependent Kinase Inhibitor p21 / metabolism
  • Glucosylceramides / genetics
  • Glucosylceramides / metabolism
  • Humans
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / metabolism
  • Molecular Chaperones / genetics*
  • Molecular Chaperones / metabolism
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Neuronal Ceroid-Lipofuscinoses / pathology
  • Sphingolipids / genetics
  • Sphingolipids / isolation & purification
  • Sphingolipids / metabolism
  • Sphingosine / genetics
  • Sphingosine / metabolism
  • Sulfoglycosphingolipids / metabolism
  • Up-Regulation

Substances

  • CLN3 protein, human
  • Cyclin-Dependent Kinase Inhibitor p21
  • Glucosylceramides
  • Membrane Glycoproteins
  • Molecular Chaperones
  • Sphingolipids
  • Sulfoglycosphingolipids
  • Sphingosine