Green Fluorescent mutant HTT-92Q inducible CELL LINE

Huntington’s disease (HD) is a hereditary progressive autosomal dominant neurodegenerative disease characterized by choreatic movements; and also neuropsychiatric disorders leading to cognitive decline. HD is caused as a result of a mutation that multiplies the CAG codons encoding the amino acid glutamine in the exon 1 on the short arm of chromosome 4p16.3 in the Huntingtine (HTT) gene. The number of CAG triplets can vary over a wide range. The disease developes when the number of repetitions exceeds 35. The longer the CAG repeats, the earlier the onset of disease. In cases of juvenile onset Huntingtine´s disease (JHD) the CAG triplets often exceeds 55. Mutant HTT (mHTT) fragments have been described to underlie the molecular pathogenesis of Huntington´s disease. The toxicity of N-terminal fragments has been studied in human post-mortem tissues and mouse models concluding that the exon 1 of mutant HTT protein is the most pathogenic HTT fragment. Indeed, the aggregates have been only detected by antibodies to the N-terminus of HTT. Innoprot´s green fluorescent mHTT-92Q (exon 1) inducible U2OS cell line is a useful tool in cell-based assays.