Neural progenitor cells from an adult patient with fragile X syndrome

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

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


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.

Original languageEnglish (US)
Article number2
JournalBMC Medical Genetics
StatePublished - Jan 14 2005

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Genetics


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