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少突胶质细胞功能障碍在亨廷顿舞蹈病中的作用。

The role of oligodendroglial dysfunction in Huntington's disease.

作者信息

Li Xinhui, Li Shihua, Li Xiao-Jiang, Nguyen Huu Phuc, Petersen Asa, Pouladi Mahmoud A

机构信息

Guangdong Provincial Key Laboratory of Non-Human Primate Research, Key Laboratory of CNS Regeneration (Ministry of Education), Guangdong-Hongkong-Macau Institute of CNS Regeneration, Jinan University,Guangzhou, China.

Department of Human Genetics, Medical Faculty, Ruhr University of Bochum, Bochum, Germany.

出版信息

J Huntingtons Dis. 2025 Aug;14(3):270-278. doi: 10.1177/18796397251358017. Epub 2025 Aug 7.

Abstract

Huntington's disease (HD) is a fatal neurodegenerative disorder characterized by progressive motor, cognitive, and psychiatric symptoms. Research efforts to understand and treat the disease have historically focused on neuronal pathology, but growing evidence underscores the critical role of oligodendrocytes in its pathogenesis. This review synthesizes recent findings on oligodendroglial dysfunction in HD, showing that white matter abnormalities arise early in disease progression, often preceding gray matter changes and clinical symptoms. Neuroimaging and postmortem studies reveal significant white matter atrophy, myelin breakdown, and impaired oligodendrocyte maturation in both patients and animal models. The myelination response to environmental factors is also altered in HD, suggesting impaired white matter plasticity in the disease. At the molecular level, mutant huntingtin disrupts oligodendrocyte function through transcriptional dysregulation of myelin genes, epigenetic modifications involving PRC2 and REST, altered lipid metabolism, thiamine pathway dysfunction, and aberrant BDNF signaling. Key oligodendroglial transcriptional regulators such as MYRF and TCF7L2 are compromised in HD, leading to defective myelination and reduced metabolic support for neurons. Recognizing the role of these mechanisms provides potential biomarkers for early detection and therapeutic targets aimed at preserving both neuronal and glial function in HD.

摘要

亨廷顿舞蹈症(HD)是一种致命的神经退行性疾病,其特征为进行性运动、认知和精神症状。历史上,旨在了解和治疗该疾病的研究工作主要集中在神经元病理学方面,但越来越多的证据强调了少突胶质细胞在其发病机制中的关键作用。这篇综述综合了近期关于HD中少突胶质细胞功能障碍的研究结果,表明白质异常在疾病进展早期就会出现,通常早于灰质变化和临床症状。神经影像学和尸检研究显示,患者和动物模型均存在显著的白质萎缩、髓鞘破坏以及少突胶质细胞成熟受损。HD中对环境因素的髓鞘形成反应也发生了改变,提示该疾病中白质可塑性受损。在分子水平上,突变的亨廷顿蛋白通过髓鞘基因的转录失调、涉及PRC2和REST的表观遗传修饰、脂质代谢改变、硫胺素途径功能障碍以及异常的BDNF信号传导来破坏少突胶质细胞功能。关键的少突胶质细胞转录调节因子,如MYRF和TCF7L2,在HD中受到损害,导致髓鞘形成缺陷以及对神经元的代谢支持减少。认识到这些机制的作用为HD的早期检测提供了潜在的生物标志物,并为旨在保护神经元和胶质细胞功能的治疗靶点提供了依据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19a8/12361682/6f79e54fabb7/10.1177_18796397251358017-fig1.jpg

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