Neural progenitor cells from an adult patient with fragile X syndrome
- Author(s): Schwartz, Philip H.
- Tassone, Flora
- Greco, Claudia M.
- Nethercott, Hubert E.
- Ziaeian, Boback
- Hagerman, Randi J.
- Hagerman, Paul J.
- et al.
Published Web Locationhttps://doi.org/10.1186/1471-2350-6-2
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.