Human embryonic stem cell models of Huntington disease
JC Niclis, AO Trounson, M Dottori, AM Ellisdon, SP Bottomley, Y Verlinsky, DS Cram
REPRODUCTIVE BIOMEDICINE ONLINE | ELSEVIER SCI LTD | Published : 2009
Huntington disease (HD) is an incurable late-onset neurodegenerative disorder caused by a CAG repeat expansion in exon 1 of the HD gene (HTT). The major hallmark of disease pathology is neurodegeneration in the brain. Currently, there are no useful in-vitro human models of HD. Recently, two human embryonic stem cell (hESC) lines carrying partial (CAG(37)) and fully (CAG(51)) penetrant mutant alleles have been derived from affected IVF embryos identified following preimplantation genetic diagnosis (PGD). Fluorescence polymerase chain reaction (F-PCR) and Genescan analysis confirmed the original embryonic HD genotypes. Reverse transcription PCR (RT-PCR) analysis confirmed the expression of mut..View full abstract
The authors thank Karen Koh, Linh Nguyen and Paolo Carai for the re-establishment of hESC lines and assistance with their growth and maintenance. Jonathan Niclis was supported by an Australian Postgraduate Award PhD scholarship from the Federal Government of Australia.