Molecular Pathogenesis in Huntington’s Disease
- 作者: Illarioshkin S.1, Klyushnikov S.1,2, Vigont V.2, Seliverstov Y.1, Kaznacheyeva E.2
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隶属关系:
- Research Center of Neurology
- Institute of Cytology
- 期: 卷 83, 编号 9 (2018)
- 页面: 1030-1039
- 栏目: Review
- URL: https://journals.rcsi.science/0006-2979/article/view/151710
- DOI: https://doi.org/10.1134/S0006297918090043
- ID: 151710
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详细
Huntington’s disease (HD) is a severe autosomal dominant neurodegenerative disorder characterized by a combination of motor, cognitive, and psychiatric symptoms, atrophy of the basal ganglia and the cerebral cortex, and inevitably progressive course resulting in death 5–20 years after manifestation of its symptoms. HD is caused by expansion of CAG repeats in the HTT gene, which leads to pathological elongation of the polyglutamine tract within the respective protein-huntingtin. In this review, we present a modern view on molecular biology of HD as a representative of the group of polyglutamine diseases, with an emphasis on conformational changes of mutant huntingtin, disturbances in its cellular processing, and proteolytic stress in degenerating neurons. Main pathogenetic mechanisms of neurodegeneration in HD are discussed in detail, such as systemic failure of transcription, mitochondrial dysfunction and suppression of energy metabolism, abnormalities of cytoskeleton and axonal transport, microglial inflammation, decrease in synthesis of brain-derived neurotrophic factor, etc.
作者简介
S. Illarioshkin
Research Center of Neurology
编辑信件的主要联系方式.
Email: snillario@gmail.com
俄罗斯联邦, Moscow, 125367
S. Klyushnikov
Research Center of Neurology; Institute of Cytology
Email: snillario@gmail.com
俄罗斯联邦, Moscow, 125367; St. Petersburg, 194064
V. Vigont
Institute of Cytology
Email: snillario@gmail.com
俄罗斯联邦, St. Petersburg, 194064
Yu. Seliverstov
Research Center of Neurology
Email: snillario@gmail.com
俄罗斯联邦, Moscow, 125367
E. Kaznacheyeva
Institute of Cytology
Email: snillario@gmail.com
俄罗斯联邦, St. Petersburg, 194064