Dataset Information

Analysis of (CAG)_n expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy.

ABSTRACT: Multiple system atrophy (MSA) is a complex and multifactorial neurodegenerative disease, and its pathogenesis remains uncertain. Patients with MSA or spinocerebellar ataxia (SCA) show overlapping clinical phenotypes. Previous studies have reported that intermediate or long CAG expansions in SCA genes have been associated with other neurodegenerative disease. In this study, we screened for the number of CAG repeats in ATXN1, 2 and 3 in 200 patients with MSA and 314 healthy controls to evaluate possible associations between (CAG)_n in these three polyQ-related genes and MSA. Our findings indicated that longer repeat lengths in ATXN2 were associated with increased risk for MSA in Chinese individuals. No relationship was observed between CAG repeat length in the three examined genes and age at onset (AO) of MSA.

SUBMITTER: Zhou X

PROVIDER: S-EPMC5832826 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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Analysis of (CAG)<sub>n</sub> expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy.

Zhou X X Wang C C Ding D D Chen Z Z Peng Y Y Peng H H Hou X X Wang P P Hou X X Ye W W Li T T Yang H H Qiu R R Xia K K Sequeiros J J Tang B B Jiang H H

Scientific reports 20180301 1

Multiple system atrophy (MSA) is a complex and multifactorial neurodegenerative disease, and its pathogenesis remains uncertain. Patients with MSA or spinocerebellar ataxia (SCA) show overlapping clinical phenotypes. Previous studies have reported that intermediate or long CAG expansions in SCA genes have been associated with other neurodegenerative disease. In this study, we screened for the number of CAG repeats in ATXN1, 2 and 3 in 200 patients with MSA and 314 healthy controls to evaluate po ...[more]

PMID: 29497168

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Project description:Multiple system atrophy (MSA) is an orphan, fatal, adult-onset neurodegenerative disorder of uncertain etiology that is clinically characterized by various combinations of parkinsonism, cerebellar, autonomic, and motor dysfunction. MSA is an ?-synucleinopathy with specific glioneuronal degeneration involving striatonigral, olivopontocerebellar, and autonomic nervous systems but also other parts of the central and peripheral nervous systems. The major clinical variants correlate with the morphologic phenotypes of striatonigral degeneration (MSA-P) and olivopontocerebellar atrophy (MSA-C). While our knowledge of the molecular pathogenesis of this devastating disease is still incomplete, updated consensus criteria and combined fluid and imaging biomarkers have increased its diagnostic accuracy. The neuropathologic hallmark of this unique proteinopathy is the deposition of aberrant ?-synuclein in both glia (mainly oligodendroglia) and neurons forming glial and neuronal cytoplasmic inclusions that cause cell dysfunction and demise. In addition, there is widespread demyelination, the pathogenesis of which is not fully understood. The pathogenesis of MSA is characterized by propagation of misfolded ?-synuclein from neurons to oligodendroglia and cell-to-cell spreading in a "prion-like" manner, oxidative stress, proteasomal and mitochondrial dysfunction, dysregulation of myelin lipids, decreased neurotrophic factors, neuroinflammation, and energy failure. The combination of these mechanisms finally results in a system-specific pattern of neurodegeneration and a multisystem involvement that are specific for MSA. Despite several pharmacological approaches in MSA models, addressing these pathogenic mechanisms, no effective neuroprotective nor disease-modifying therapeutic strategies are currently available. Multidisciplinary research to elucidate the genetic and molecular background of the deleterious cycle of noxious processes, to develop reliable biomarkers and targets for effective treatment of this hitherto incurable disorder is urgently needed.

Dataset Information

Analysis of (CAG)_n expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy.

Publications

Analysis of (CAG)<sub>n</sub> expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy.

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Dataset Information

Analysis of (CAG)n expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy.

Publications

Analysis of (CAG)<sub>n</sub> expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets

Analysis of (CAG)_n expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy.