Molecular Pathogenesis in Huntington's Disease
| Autor: | Yu A Seliverstov, Sergey N. Illarioshkin, S. A. Klyushnikov, Elena Kaznacheyeva, Vladimir Vigont |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Huntingtin Biology Biochemistry Axonal Transport 03 medical and health sciences 0302 clinical medicine Atrophy Huntington's disease Neurotrophic factors Basal ganglia medicine Humans Cytoskeleton Huntingtin Protein Neurodegeneration General Medicine Polyglutamine tract medicine.disease CREB-Binding Protein Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha Mitochondria 030104 developmental biology medicine.anatomical_structure Huntington Disease Cerebral cortex Energy Metabolism Peptides Neuroscience 030217 neurology & neurosurgery |
| Zdroj: | Biochemistry. Biokhimiia. 83(9) |
| ISSN: | 1608-3040 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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