ArticleJournal of neurology2026
Distinct age-related pattern of mitochondrial somatic mutations across multiple sclerosis phenotypes.
Article in Journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundMitochondrial dysfunction has been proposed as a contributor to neurodegeneration in multiple sclerosis (MS). While the accumulation of somatic mitochondrial DNA (mtDNA) mutations with age is well documented in other neurodegenerative conditions, its role in MS progression remains largely unexplored. The aim of this study was to investigate the association between age and somatic mtDNA mutation burden in MS patients and evaluate whether any difference exists according to disease course.
methodsA total of 404 MS patients were recruited. Whole mtDNA was sequenced from blood-derived DNA using long-range PCR and the Illumina
resultsWe observed a significant age-dependent increase in low-frequency non-synonymous mtDNA mutations in MS. Analyses stratified by disease course revealed that this effect was substantially driven by PPMS patients (n = 238, P = 2.71 × 10
conclusionsThese findings support the existence of a differential age-related accumulation of somatic mtDNA mutations detected in blood across MS courses.
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