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

 2017;1599:391-400. doi: 10.1007/978-1-4939-6955-5_28.
 
Stewart R1, Wali G2, Perry C3, Lavin MF4, Féron F5,6, Mackay-Sim A2, Sutharsan R7,8.

Author information

1
University of Queensland Centre for Clinical Research, Brisbane, QLD, 4006, Australia.
2
Eskitis Institute for Drug Discovery, Griffith University, Nathan, QLD, 4111, Australia.
3
Department of Otolaryngology Head and Neck Surgery, Princess Alexandra Hospital, Woolloongabba, Brisbane, QLD, 4012, Australia.
4
University of Queensland Centre for Clinical Research (UQCCR), University of Queensland, Herston, Brisbane, QLD, 4006, Australia.
5
Aix Marseille Université, CNRS, NICN, UMR7259, 13344, Marseille, France.
6
APHM, Centre d'Investigations Cliniques en Biothérapie, CIC-BT 510, Marseille, France.
7
Eskitis Institute for Drug Discovery, Griffith University, Nathan, QLD, 4111, Australia. r.sutharsan@griffith.edu.au.
8
Griffith Institute for Drug Discovery (GRIDD), Griffith University, Brisbane Innovation Park, Don Young Road, Nathan, QLD, 4111, Australia. r.sutharsan@griffith.edu.au.

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

PMID:
 
28477134
 
DOI:
 
10.1007/978-1-4939-6955-5_28
[Indexed for MEDLINE]