Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Schwartz, P.H. et al.

Schwartz, Tassone, Greco, Nethercott, Ziaeian, Hagerman, Hagerman,

Neural progenitor cells from an adult patient with fragile X syndrome.

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.[1]

References

Neural progenitor cells from an adult patient with fragile X syndrome. Schwartz, P.H., Tassone, F., Greco, C.M., Nethercott, H.E., Ziaeian, B., Hagerman, R.J., Hagerman, P.J. BMC Med. Genet. (2005) [Pubmed]

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