Mitogenom mutasyon repertuarı Parkinson Hastalığının ilerlemesini etkiler

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Abstract Background Mitochondrial genome variation is a risk factor for Parkinson's disease, but its role in levodopa-induced dyskinesia remains incompletely understood. This study investigates the mitochondrial mutation repertoire as potential biomarkers for levodopa-induced dyskinesia in Parkinson's disease patients. Methods We analyzed the mitogenome by next generation sequencing data from 42 controls and 45 people with Parkinson's (25 without dyskinesia and 20 with dyskinesia). The mtDNA-server2 workflow were applied for variant calling analysis. Results Transition and transversion rates vary during disease progression, especially in patients without levodopa-induced dyskinesia. Although the occurrence of these mutations does not follow a linear pattern, transitions modestly increase with age. Specific coding regions (MT-CO1, MT-CO3, MT-ND4, MT-ND5) and the regulatory region (MT-RNR2) showed enrichment of transitions and transversions in patients without dyskinesia. Conclusion The study highlights dynamic shifts in the mitochondrial mutation repertoire with clinical implications in underrepresented populations, emphasizing the importance of considering genetic characteristics in diverse groups.

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