title: Neural progenitor cells from an adult patient with fragile X syndrome.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: National Human Neural Stem Cell Resource, Children's Hospital of Orange County Research Institute, Orange, CA, USA. pschwartz@choc.org
authors.forename: Philip H
authors.initials: PH
authors.lastname: Schwartz
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.forename: Claudia M
authors.initials: CM
authors.lastname: Greco
authors.forename: Hubert E
authors.initials: HE
authors.lastname: Nethercott
authors.forename: Boback
authors.initials: B
authors.lastname: Ziaeian
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Hagerman
mesh_terms: D000328:Adult; D000483:Alleles; D001921:Brain / Q000473:pathology; D002478:Cells, Cultured; D004247:DNA / Q000235:genetics; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000473:pathology*; D005966:Glucuronidase / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D009474:Neurons / Q000378:metabolism / Q000473:pathology*; D017397:Prefrontal Cortex / Q000737:chemistry; D012333:RNA, Messenger / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics; D013234:Stem Cells / Q000473:pathology*; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D004247:DNA; D051860:Fragile X Messenger Ribonucleoprotein 1; D005966:Glucuronidase; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human