Induced pluripotent stem cells (iPSCs) generated from somatic cells of patients can provide immense opportunities to model human diseases, which may lead to develop novel therapeutics. Huntington's disease (HD) is a devastating neurodegenerative genetic disease, with no available therapeutic options at the moment. We recently reported the characteristics of a HD patient-derived iPSC carrying 72 CAG repeats (HD72-iPSC). In this study, we investigated the in vivo roles of HD72-iPSC in the YAC128 transgenic mice, a commonly used HD mouse model carrying 128 CAG repeats. To do this, we transplanted HD72-iPSC-derived neural precursors into the striatum of YAC128 mice bilaterally and observed a significant behavioral improvement in the grafted mice. Interestingly, the transplanted HD72-iPSC-derived neural precursors formed GABAeric neurons efficiently, but no EM48-positive protein aggregates were detected at 12 weeks after transplantation. Taken together, these results indicate no HD pathology was developed from the grafted cells, or no transmission of HD pathology from the host to the graft occurred at 12 weeks post-transplantation.

中文翻译：

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患者来源的诱导多能干细胞系 (HD72-iPSC) 在亨廷顿病 YAC128 模型中的体内作用。

从患者的体细胞产生的诱导多能干细胞 (iPSC) 可以为模拟人类疾病提供巨大的机会，这可能会导致开发新的治疗方法。亨廷顿病 (HD) 是一种毁灭性的神经退行性遗传病，目前没有可用的治疗选择。我们最近报道了携带 72 个 CAG 重复序列的 HD 患者来源的 iPSC (HD72-iPSC) 的特征。在这项研究中，我们研究了 HD72-iPSC 在 YAC128 转基因小鼠中的体内作用，YAC128 转基因小鼠是一种常用的携带 128 个 CAG 重复序列的 HD 小鼠模型。为此，我们将 HD72-iPSC 衍生的神经前体移植到 YAC128 小鼠的双侧纹状体中，并观察到移植小鼠的行为显着改善。有趣的是，移植的 HD72-iPSC 衍生神经前体有效形成 GABAeric 神经元，但在移植后 12 周未检测到 EM48 阳性蛋白聚集体。总之，这些结果表明移植细胞没有发生 HD 病理，或者移植后 12 周没有发生 HD 病理从宿主传递到移植物。