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Mini-Review: The MSA transcriptome
Alexandra Pérez-Soriano1, María J Martí1
1Parkinson's Disease & Movement Disorders Unit, Hospital Clínic / IDIBAPS / CIBERNED CB06/05/0018/ European Reference Network for Rare NeurologicalDiseases (ERN-RND Project ID: 739510) / Institut de Neurociències, University of Barcelona, Catalonia, Spain.
Abstract:
Multiple system atrophy (MSA) is an atypical parkinsonism that rapidly affects motor ability and autonomic function, leaving patients wheelchair-bound and dependent for daily activities in 3-5 years. Differential diagnosis is challenging as cases may resemble Parkinson's disease or other ataxic syndromes depending on the clinical variant (MSA-P or MSA-C), especially in early stages. There are limited symptomatic treatments and no disease-modifying therapies. Pathologically, alpha-synuclein aggregates are found in glial cytoplasmic inclusions, among other proteins, as well as in neurons. The molecular pathogenesis of the disease, however, is widely unknown. Transcriptomic studies in MSA have tried to unravel the pathological mechanisms involved in the disease. Several biological and molecular processes have been described in the literature that associate disease pathogenesis with inflammation, mitochondrial, and autophagy related dysfunctions, as well as prion disease and Alzheimer disease associated pathways. These reports have also registered several differential diagnostic biomarker candidates. However, cross-validation between studies, in general, is poor, making clinical applicability and data reliability very challenging. This review will go over the main transcriptomic studies done in MSA, reporting on the most significant transcriptive and post-transcriptive changes described, and focusing on the main consensual findings.
Insights
Multiple system atrophy (MSA) is a rare neurological disorder. This review synthesizes transcriptomic studies to identify consistent molecular changes and potential biomarkers for this challenging disease.
Area of Science:
- Neuroscience
- Genomics
- Molecular Biology
Background:
- Multiple system atrophy (MSA) is a rapidly progressive neurodegenerative disorder.
- It presents as atypical parkinsonism with autonomic dysfunction, posing diagnostic challenges.
- Current treatments are limited, and the molecular pathogenesis remains largely unknown.
Purpose of the Study:
- To review and synthesize findings from transcriptomic studies in MSA.
- To identify consistent molecular and transcriptive changes associated with MSA pathogenesis.
- To highlight potential diagnostic biomarker candidates and challenges in data reliability.
Main Methods:
- Comprehensive literature search of transcriptomic studies in MSA.
- Analysis and comparison of reported transcriptive and post-transcriptive changes.
- Focus on identifying consensual findings across multiple studies.
Main Results:
- Transcriptomic studies reveal associations between MSA pathogenesis and inflammation, mitochondrial dysfunction, and autophagy.
- Pathways related to prion and Alzheimer diseases are also implicated.
- Several potential diagnostic biomarker candidates have been identified, though cross-validation is limited.
Conclusions:
- Transcriptomic data offers insights into MSA's molecular mechanisms, including inflammation and cellular stress pathways.
- Consensus findings are crucial for advancing understanding and developing reliable biomarkers.
- Improved cross-validation of transcriptomic studies is needed for clinical applicability in diagnosing MSA.
