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Mitochondrial D-loop region methylation differentiates Parkinson’s disease from atypical parkinsonism and Parkinson’s disease dementia

Year: 2026
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by dopaminergic neuron loss and α-synuclein aggregation. Epigenetic mechanisms, including mitochondrial DNA (mtDNA) methylation, have been implicated in PD pathogenesis. Methylation of the mitochondrial displacement loop (D-loop) region may play a role in neurodegenerative processes. RESEARCH DESIGN AND METHODS: This case study assessed D-loop methylation levels in peripheral blood samples from 37 patients with PD, 18 patients with Parkinson's disease dementia (PD-D), 26 patients with atypical parkinsonism (APS), and 26 healthy controls (HC). Associations with clinical parameters, sex, and L-dopa treatment were analyzed. RESULTS: D-loop methylation levels were significantly reduced in patients with PD-D and APS compared to PD patients and HC. Methylation levels were not associated with disease duration, clinical variables, sex, or L-dopa treatment. CONCLUSIONS: Decreased mitochondrial D-loop methylation in PD-D and APS may reflect disease-specific epigenetic mechanisms rather than clinical characteristics or treatment effects.
Source: Epigenomics
Language: English
Subfield: Neurology
Field: Medicine
Open Access status: green
OpenAlex ID: W7128585955
FWCI: 4.155
Cites: 34
Cited by: 1
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