Progresif Supranükleer Palsy Hastalarında Mitokondriyal DNA Kopya Numarasının Değerlendirilmesi: Pilot Çalışmadan Kanıt.

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BackgroundProgressive supranuclear palsy (PSP) is a rare neurodegenerative tauopathy characterized by early postural instability and vertical gaze palsy. Mitochondrial dysfunctions have been increasingly implicated in the pathogenesis of neurodegenerative disorders, including PSP. We investigated mitochondrial DNA copy number (mtDNA-CN) alterations in the peripheral blood of PSP patients, assessing its potential as a biomarker for disease onset and progression.MethodsWe measured mtDNA-CN in a cohort of clinically diagnosed PSP patients and age-matched healthy controls using quantitative real-time PCR. We evaluated differences across clinical phenotypes and age groups.ResultsPSP patients exhibited a significant reduction in ND3-CN compared to healthy controls (p ConclusionsOur findings support the involvement of mitochondrial dysfunction in PSP pathogenesis, suggesting that peripheral mtDNA-CN may serve as a non-invasive biomarker for disease monitoring. Further studies in larger cohorts are warranted to validate its prognostic potential in different PSP phenotypes.

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