Journal of Neural Transmission

, Volume 115, Issue 11, pp 1521–1526

Mitochondrial DNA haplogroups and subhaplogroups are associated with Parkinson’s disease risk in a Polish PD cohort

  • Katarzyna Gaweda-Walerych
  • Aleksandra Maruszak
  • Krzysztof Safranow
  • Monika Bialecka
  • Gabriela Klodowska-Duda
  • Krzysztof Czyzewski
  • Jaroslaw Slawek
  • Monika Rudzinska
  • Maria Styczynska
  • Grzegorz Opala
  • Marek Drozdzik
  • Jeffrey A. Canter
  • Maria Barcikowska
  • Cezary Zekanowski
Parkinson's Disease and Allied Conditions - Original Article

DOI: 10.1007/s00702-008-0121-9

Cite this article as:
Gaweda-Walerych, K., Maruszak, A., Safranow, K. et al. J Neural Transm (2008) 115: 1521. doi:10.1007/s00702-008-0121-9

Abstract

mtDNA common variation is inconsistently reported to modify the risk of Parkinson’s disease (PD). We evaluated the impact of the mitochondrial haplogroups, subhaplogroups, coding and non-coding single-nucleotide polymorphisms on PD risk in 241 PD patients and 277 control subjects. After stratification by gender, we found that haplogroup J (OR 0.19; 95% CI 0.069–0.53; P = 0.0014) was associated with a lower PD risk in males. Unexpectedly, subhaplogroup analysis based on the control region (CR) polymorphisms demonstrated that subcluster K1a was more prevalent in healthy controls, while K1c was more frequent in PD patients (P = 0.025 and P = 0.011, respectively; two-tailed Fisher’s exact test). Additionally, we confirmed the hypothesis that sublineages (U4 + U5a1 + K+J1c + J2), previously proposed to partially uncouple oxidative phosphorylation (OXPHOS), decrease PD risk (P = 0.027, χ2 with Yates’ correction). The putative protective effect of uncoupling mtDNAs against PD might result from decreased production of reactive oxygen species. We propose that stratification into subhaplogroups or by gender could be necessary to reveal the involvement of specific mtDNA sublineages in PD pathogenesis.

Keywords

Parkinson’s disease Mitochondrial haplogroups Mitochondrial control region polymorphisms 

Supplementary material

702_2008_121_MOESM1_ESM.doc (213 kb)
Supplementary Tables (DOC 213 kb)
702_2008_121_MOESM2_ESM.tif (16.3 mb)
Supplementary Figure (Tif 16645 kb)

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Katarzyna Gaweda-Walerych
    • 1
  • Aleksandra Maruszak
    • 1
  • Krzysztof Safranow
    • 2
  • Monika Bialecka
    • 3
  • Gabriela Klodowska-Duda
    • 4
  • Krzysztof Czyzewski
    • 5
  • Jaroslaw Slawek
    • 6
  • Monika Rudzinska
    • 7
  • Maria Styczynska
    • 1
  • Grzegorz Opala
    • 4
  • Marek Drozdzik
    • 3
  • Jeffrey A. Canter
    • 8
  • Maria Barcikowska
    • 1
  • Cezary Zekanowski
    • 1
  1. 1.Department of Neurodegenerative DisordersMedical Research Center Polish Academy of SciencesWarsawPoland
  2. 2.Department of Biochemistry and Medical ChemistryPomeranian Medical UniversitySzczecinPoland
  3. 3.Department of Experimental and Clinical PharmacologyPomeranian Medical UniversitySzczecinPoland
  4. 4.Department of Neurology, Ageing, Degenerative and Cerebrovascular DiseasesMedical University of SilesiaKatowicePoland
  5. 5.Department of NeurologyMSWiA HospitalWarsawPoland
  6. 6.Department of Neurology, St Adalbert Hospital and Department of Neurological-Psychiatric NursingMedical UniversityGdańskPoland
  7. 7.Department of NeurologyJagiellonian University Medical CollegeKrakówPoland
  8. 8.Center for Human Genetics ResearchVanderbilt University Medical CenterNashvilleUSA

Personalised recommendations