Benraiss Abdellatif, Mariani John N, Tate Ashley, Madsen Pernille M, Clark Kathleen M, Welle Kevin A, Solly Renee, Capellano Laetitia, Bentley Karen, Chandler-Militello Devin, Goldman Steven A
Center for Translational Neuromedicine, University of Rochester Medical Center (URMC), Rochester, NY 14642, USA.
Center for Translational Neuromedicine, University of Rochester Medical Center (URMC), Rochester, NY 14642, USA.
Cell Rep. 2022 Aug 30;40(9):111291. doi: 10.1016/j.celrep.2022.111291.
Huntington's disease (HD) is characterized by defective oligodendroglial differentiation and white matter disease. Here, we investigate the role of oligodendrocyte progenitor cell (OPC) dysfunction in adult myelin maintenance in HD. We first note a progressive, age-related loss of myelin in both R6/2 and zQ175 HD mice compared with wild-type controls. Adult R6/2 mice then manifest a significant delay in remyelination following cuprizone demyelination. RNA-sequencing and proteomic analysis of callosal white matter and OPCs isolated from both R6/2 and zQ175 mice reveals a systematic downregulation of genes associated with oligodendrocyte differentiation and myelinogenesis. Gene co-expression and network analysis predicts repressed Tcf7l2 signaling as a major driver of this expression pattern. In vivo Tcf7l2 overexpression restores both myelin gene expression and remyelination in demyelinated R6/2 mice. These data causally link impaired TCF7L2-dependent transcription to the poor development and homeostatic retention of myelin in HD and provide a mechanism for its therapeutic restoration.
亨廷顿舞蹈症(HD)的特征是少突胶质细胞分化缺陷和白质疾病。在此,我们研究少突胶质前体细胞(OPC)功能障碍在HD成年髓鞘维持中的作用。我们首先注意到,与野生型对照相比,R6/2和zQ175 HD小鼠均存在与年龄相关的髓鞘进行性丧失。成年R6/2小鼠在经铜螯合剂脱髓鞘后,髓鞘再生出现显著延迟。对从R6/2和zQ175小鼠分离的胼胝体白质和OPC进行RNA测序和蛋白质组分析,结果显示与少突胶质细胞分化和髓鞘形成相关的基因出现系统性下调。基因共表达和网络分析预测,Tcf7l2信号通路的抑制是这种表达模式的主要驱动因素。在体内过表达Tcf7l2可恢复脱髓鞘R6/2小鼠的髓鞘基因表达和髓鞘再生。这些数据将受损的TCF7L2依赖性转录与HD中髓鞘发育不良和稳态维持受损因果关联起来,并为其治疗性恢复提供了一种机制。