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亨廷顿舞蹈症的循证分子途径、可用药物靶点、临床前动物模型及未来疾病修饰治疗

Evidence based molecular pathways, available drug targets, pre- clinical animal models and future disease modifying treatments of huntington's disease.

作者信息

Goel Falguni, Dobhal Vaishali, Kumar Daksh, Rai Sachchida Nand, Yadav Dharmendra Kumar

机构信息

Department of Pharmaceutical Technology, Meerut Institute of Engineering & Technology (MIET), Meerut, India.

Motherhood University, Roorkee, India.

出版信息

Mol Biol Rep. 2025 Jul 25;52(1):754. doi: 10.1007/s11033-025-10852-1.

Abstract

Huntington's disease is an autosomal dominant neurodegenerative disorder of variable progression. Its major features are motor dysfunction, cognitive decline, and psychiatric disturbances. The onset of HD in a patient occurs because of a polyglutamine-expanding mutation within the HTT gene, which leads to the formation of mutant huntingtin protein that aggregates and disrupts neuronal function. Epidemiologically, HD afflicts about 5-10 people per 100,000 throughout the world. However, among populations of European descent, its prevalence is increased. Even after much study into the disorder, myths prevail relating to onset and inheritance of this disorder; including myths such as non-genetic transmission, along with myths such as variation in symptoms, the myths feed on stigma, contributing to a delay in diagnosis and management. Neurodegenerative level in HD affects the basal ganglia especially the striatum leading to impaired motor coordination, chorea, and cognitive deficits. Pathophysiology encompasses excitotoxicity, mitochondrial dysfunction, oxidative stress, and impaired protein clearance mechanisms that end in neuronal loss. The future research areas in the management of HD include gene silencing techniques, stem cell therapy, and even advanced neuroprotective agents acting through a disease-modifying mechanism. The hope of CRISPR-Cas9 gene editing is correction at the source level, and ASOs target reduction in the expression of the mutant huntingtin protein. The introduction of personalized medicine for discovery based on biomarkers could further buttress early diagnosis and effectiveness of treatment. The most revolutionary approach towards the treatment of HD can be a multi-disciplinary approach encompassing conventional therapies and novel genetic techniques.

摘要

亨廷顿舞蹈症是一种常染色体显性遗传的神经退行性疾病,病情发展多变。其主要特征为运动功能障碍、认知能力下降和精神障碍。患者患上亨廷顿舞蹈症是由于HTT基因内的多聚谷氨酰胺扩展突变,这会导致突变的亨廷顿蛋白形成,该蛋白聚集并破坏神经元功能。从流行病学角度来看,全球每10万人中约有5至10人患有亨廷顿舞蹈症。然而,在欧洲血统人群中,其患病率更高。即便对该疾病进行了大量研究,但关于其发病和遗传的误解仍然盛行;包括非遗传传播等误解,以及症状变异等误解,这些误解滋生了污名化现象,导致诊断和治疗延迟。亨廷顿舞蹈症的神经退行性病变影响基底神经节,尤其是纹状体,导致运动协调受损、舞蹈症和认知缺陷。病理生理学包括兴奋性毒性、线粒体功能障碍、氧化应激以及导致神经元丢失的蛋白质清除机制受损。亨廷顿舞蹈症治疗方面未来的研究领域包括基因沉默技术、干细胞疗法,甚至是通过疾病修饰机制起作用的先进神经保护剂。CRISPR - Cas9基因编辑的希望在于从源头上进行纠正,反义寡核苷酸(ASO)旨在降低突变亨廷顿蛋白的表达。基于生物标志物引入个性化医学用于发现,可进一步加强早期诊断和治疗效果。治疗亨廷顿舞蹈症最具革命性的方法可能是一种多学科方法,涵盖传统疗法和新型基因技术。

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