Journal article

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

Abstract

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..

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University of Melbourne Researchers