Neural progenitor cells from an adult patient with fragile X syndrome

BMC Med Genet. 2005 Jan 14;6:2. doi: 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Alleles
  • Brain / pathology
  • Cells, Cultured
  • DNA / genetics
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / pathology*
  • Glucuronidase / genetics
  • Humans
  • Immunohistochemistry / methods
  • Intellectual Disability / genetics
  • Male
  • Nerve Tissue Proteins / genetics
  • Neurons / metabolism
  • Neurons / pathology*
  • Prefrontal Cortex / chemistry
  • RNA, Messenger / metabolism
  • RNA-Binding Proteins / genetics
  • Sequence Deletion / genetics
  • Stem Cells / pathology*
  • Trinucleotide Repeats / genetics


  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA, Messenger
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein
  • DNA
  • Glucuronidase