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


Karacicek B., Ozturk B., Oztop Cakmak O., Ertan F. S., KESKİNOĞLU P., GENÇ Ş.

Epigenomics, 2026 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2026
  • Doi Numarası: 10.1080/17501911.2026.2627263
  • Dergi Adı: Epigenomics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Chemical Abstracts Core, EMBASE, MEDLINE
  • Anahtar Kelimeler: atypical parkinsonism, D-loop, mtDNA methylation, Parkinson disease, Parkinson’s disease dementia
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.