A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia

Methods Mol Biol. 2017:1599:391-400. doi: 10.1007/978-1-4939-6955-5_28.

Abstract

The molecular pathogenesis of ataxia-telangiectasia (A-T) is not yet fully understood, and a versatile cellular model is required for in vitro studies. The occurrence of continuous neurogenesis and easy access make the multipotent adult stem cells from the olfactory mucosa within the nasal cavity a potential cellular model. We describe an efficient method to establish neuron-like cells from olfactory mucosa biopsies derived from A-T patients for the purpose of studying the cellular and molecular aspects of this debilitating disease.

Keywords: Ataxia-telangiectasia; Neuronal differentiation; Olfactory mucosa; Stem cells.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult Stem Cells / cytology
  • Adult Stem Cells / metabolism
  • Ataxia Telangiectasia / metabolism*
  • Ataxia Telangiectasia Mutated Proteins / metabolism*
  • Cell Differentiation / genetics
  • Cell Differentiation / physiology
  • Humans
  • Olfactory Mucosa / cytology
  • Olfactory Mucosa / metabolism
  • Stem Cells / cytology*
  • Stem Cells / metabolism*

Substances

  • Ataxia Telangiectasia Mutated Proteins