Aberrant splicing of mutant huntingtin in Huntington's disease knock-in pigs

In this study, HTT exon1 production was examined in the HD knock-in (KI) pig model, which more closely recapitulates neuropathology seen in HD patient brains than HD mouse models. The study revealed that aberrant spliced HTT exon1 is also present in the brains of HD pigs, but it is expressed at a much lower level than the normally spliced HTT exon products. These findings suggest that careful consideration is needed when assessing the contribution of aberrantly spliced mHTT exon1 to HD pathogenesis, and further rigorous investigation is required.PMID:37716514 | DOI:10.1016/j.nbd.2023.106291

Source: Neurobiology of Disease - September 16, 2023 Category: Neurology Authors: Huichun Tong Tianqi Yang Li Liu Caijuan Li Yize Sun Qingqing Jia Yiyang Qin Laiqiang Chen Xianxian Zhao Gongke Zhou Sen Yan Xiao-Jiang Li Shihua Li Source Type: research