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.


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.
Schwartz
Philip H
PH
National Human Neural Stem Cell Resource, Children's Hospital of Orange County Research Institute, Orange, CA, USA. pschwartz@choc.org
Tassone
Flora
F
Greco
Claudia M
CM
Nethercott
Hubert E
HE
Ziaeian
Boback
B
Hagerman
Randi J
RJ
Hagerman
Paul J
PJ
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
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