Internal Medicine Department, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
Garrison Institute on Aging, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
J Alzheimers Dis. 2019;72(s1):S177-S191. doi: 10.3233/JAD-190851.
The purpose of our article is to critically assess the role of phosphorylated tau in Huntington's disease (HD) progression and pathogenesis. HD is a fatal and pure genetic disease, characterized by chorea, seizures, involuntary movements, dystonia, cognitive decline, intellectual impairment, and emotional disturbances. HD is caused by expanded polyglutamine (polyQ or CAG) repeats within the exon 1 of the HD gene. HD has an autosomal dominant pattern of inheritance with genetic anticipation. Although the HD gene was discovered 26 years ago, there is no complete understanding of how mutant huntingtin (mHTT) selectively targets medium spiny projection neurons in the basal ganglia of the brain in patients with HD. Several years of intense research revealed that multiple cellular changes are involved in disease process, including transcriptional dysregulation, mitochondrial abnormalities and impaired bioenergetics, defective axonal transport, calcium dyshomeostasis, synaptic damage and caspase, and NMDAR activations. Recent research also revealed that phosphorylated tau and defective GSK-3β signaling are strongly linked to progression of the disease. This article summarizes the recent developments of cellular and pathological changes in disease progression of HD. This article also highlights recent developments in phosphorylated tau and defective GSK-3β signaling and the involvement of calcineurin in HD progression and pathogenesis.
本文旨在批判性地评估磷酸化 tau 在亨廷顿病 (HD) 进展和发病机制中的作用。HD 是一种致命的纯遗传性疾病,其特征是舞蹈症、癫痫发作、不自主运动、肌张力障碍、认知能力下降、智力障碍和情绪障碍。HD 是由 HD 基因外显子 1 内的扩展多聚谷氨酰胺(多聚 Q 或 CAG)重复引起的。HD 具有常染色体显性遗传模式,存在遗传预期。尽管 HD 基因在 26 年前被发现,但对于突变亨廷顿蛋白 (mHTT) 如何选择性地靶向 HD 患者大脑基底神经节中的中型棘突投射神经元,仍缺乏全面的了解。多年的深入研究揭示了多个涉及疾病过程的细胞变化,包括转录失调、线粒体异常和生物能量受损、轴突运输缺陷、钙动态失衡、突触损伤和 caspase 以及 NMDAR 激活。最近的研究还表明,磷酸化 tau 和缺陷的 GSK-3β 信号与疾病的进展密切相关。本文总结了 HD 疾病进展中细胞和病理变化的最新进展。本文还重点介绍了磷酸化 tau 和缺陷的 GSK-3β 信号以及钙调神经磷酸酶在 HD 进展和发病机制中的作用。