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, cilt.18, sa.2, ss.197-204, 2026 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 2
  • 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
  • Sayfa Sayıları: ss.197-204
  • 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.