Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia.

ABSTRACT:

Background

Familial dysautonomia (FD) is a hereditary neuropathy caused by mutations in the IKBKAP gene, the most common of which results in variable tissue-specific mRNA splicing with skipping of exon 20. Defective splicing is especially severe in nervous tissue, leading to incomplete development and progressive degeneration of sensory and autonomic neurons. The specificity of neuron loss in FD is poorly understood due to the lack of an appropriate model system. To better understand and modelize the molecular mechanisms of IKBKAP mRNA splicing, we collected human olfactory ecto-mesenchymal stem cells (hOE-MSC) from FD patients. hOE-MSCs have a pluripotent ability to differentiate into various cell lineages, including neurons and glial cells.

Methodology/principal findings

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SUBMITTER: Boone N 

PROVIDER: S-EPMC3004942 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature