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亨廷顿舞蹈症:治疗学的新兴领域(综述)

Huntington's chorea: emerging fields in therapeutics (Review).

作者信息

Tahir Aisha, Jamal Sania, Shams Usman Ali, Mehmood Saqib

机构信息

Department of Biochemistry, University of Health Sciences, Khayaban-e- Jamia Punjab, 54600, Lahore, Punjab, Pakistan.

Department of Physiology and Pharmacology, University of Agriculture, Faisalabad, Punjab, Pakistan.

出版信息

Neurogenetics. 2025 Sep 6;26(1):66. doi: 10.1007/s10048-025-00848-1.

Abstract

Huntington's disease (HD) is a progressive, autosomal dominant neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and psychiatric disturbances. It is caused by CAG repeat expansions in the HTT gene, resulting in the formation of mutant huntingtin protein that aggregates and disrupts neuronal function. This review outlines the pathogenesis of HD, including genetic, molecular, and environmental factors. Additionally, current management approaches and emerging therapeutic strategies-such as RNA interference, antisense oligonucleotides (ASOs), peptide inhibitors, and CRISPR/Cas9 gene editing-are discussed. Advancements in these novel therapies highlight a shift towards disease-modifying interventions. However, continued clinical and translational research is essential to develop a definitive cure.

摘要

亨廷顿舞蹈症(HD)是一种进行性常染色体显性神经退行性疾病,其特征为运动功能障碍、认知衰退和精神障碍。它由HTT基因中的CAG重复序列扩增引起,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。本综述概述了HD的发病机制,包括遗传、分子和环境因素。此外,还讨论了当前的管理方法和新兴治疗策略,如RNA干扰、反义寡核苷酸(ASO)、肽抑制剂和CRISPR/Cas9基因编辑。这些新型疗法的进展突出了向疾病修饰干预的转变。然而,持续的临床和转化研究对于开发出确切的治愈方法至关重要。

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