AI Article Synopsis
- The study investigates changes in blood plasma proteins related to adult-onset focal dystonias, which are conditions characterized by overactive muscles and abnormal movements.
- A large-scale proteomics analysis compared 6,345 proteins in individuals with focal dystonia (N=143) to healthy controls (N=49), identifying 15 proteins significantly associated with the disorder, with pathway analyses revealing links to the immune system and metal ion transport.
- A predictive model using 4 of these proteins demonstrated high accuracy in distinguishing between healthy individuals and those with dystonia, indicating potential for new biomarkers and insights into the disease's mechanisms.
Article Abstract
Objectives: The adult-onset focal dystonias are characterized by over-active muscles leading to abnormal movements. For most cases, the etiology and pathogenesis remain unknown. In the current study, unbiased proteomics methods were used to identify potential changes in blood plasma proteins.
Methods: A large-scale unbiased proteomics screen was used to compare proteins (N = 6,345) in blood plasma of normal healthy controls (N = 49) with adult-onset focal dystonia (N = 143) consisting of specific subpopulations of cervical dystonia (N = 45), laryngeal dystonia (N = 49), and blepharospasm (N = 49). Pathway analyses were conducted to identify relevant biological pathways. Finally, protein changes were used to build a prediction model for dystonia.
Results: After correction for multiple comparisons, 15 proteins were associated with adult-onset focal dystonia. Subgroup analyses revealed some proteins were shared across the dystonia subgroups while others were unique to 1 subgroup. The top biological pathways involved changes in the immune system, metal ion transport, and reactive oxygen species. A 4-protein model showed high accuracy in discriminating control individuals from dystonia cases [average area under the curve (AUC) = 0.89].
Interpretation: These studies provide novel insights into the etiopathogenesis of dystonia, as well as novel potential biomarkers. ANN NEUROL 2024;96:110-120.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11186717 | PMC |
| http://dx.doi.org/10.1002/ana.26929 | DOI Listing |
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