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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2005

Open Access 01-12-2005 | Technical advance

Neural progenitor cells from an adult patient with fragile X syndrome

Authors: Philip H Schwartz, Flora Tassone, Claudia M Greco, Hubert E Nethercott, Boback Ziaeian, Randi J Hagerman, Paul J Hagerman

Published in: BMC Medical Genetics | Issue 1/2005

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Abstract

Background

Currently, there is no adequate animal model to study the detailed molecular biochemistry of fragile X syndrome, the leading heritable form of mental impairment. In this study, we sought to establish the use of immature neural cells derived from adult tissues as a novel model of fragile X syndrome that could be used to more fully understand the pathology of this neurogenetic disease.

Methods

By modifying published methods for the harvest of neural progenitor cells from the post-mortem human brain, neural cells were successfully harvested and grown from post-mortem brain tissue of a 25-year-old adult male with fragile X syndrome, and from brain tissue of a patient with no neurological disease.

Results

The cultured fragile X cells displayed many of the characteristics of neural progenitor cells, including nestin and CD133 expression, as well as the biochemical hallmarks of fragile X syndrome, including CGG repeat expansion and a lack of FMRP expression.

Conclusion

The successful production of neural cells from an individual with fragile X syndrome opens a new avenue for the scientific study of the molecular basis of this disorder, as well as an approach for studying the efficacy of new therapeutic agents.
Appendix
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Metadata
Title
Neural progenitor cells from an adult patient with fragile X syndrome
Authors
Philip H Schwartz
Flora Tassone
Claudia M Greco
Hubert E Nethercott
Boback Ziaeian
Randi J Hagerman
Paul J Hagerman
Publication date
01-12-2005
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2005
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-6-2

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