MDS Abstracts

Abstracts from the International Congress of Parkinson’s and Movement Disorders.

MENU 
  • Home
  • Meetings Archive
    • 2024 International Congress
    • 2023 International Congress
    • 2022 International Congress
    • MDS Virtual Congress 2021
    • MDS Virtual Congress 2020
    • 2019 International Congress
    • 2018 International Congress
    • 2017 International Congress
    • 2016 International Congress
  • Keyword Index
  • Resources
  • Advanced Search

Mitochondrial DNA copy number is associated with the severity of motor symptoms and dementia in Parkinson’s disease

S. Jo, JH. Oh, S. Lee, J. Lee, CO. Sung, SJ. Chung (Seoul, Republic of Korea)

Meeting: 2023 International Congress

Abstract Number: 1085

Keywords: Dementia, Mitochondrial DNA(mtDNA), Parkinson’s

Category: Parkinson's Disease: Genetics

Objective: We aimed to investigate the diagnostic and prognostic role of blood mitochondrial DNA copy number (mtDNA-CN) measured by whole genome sequencing (WGS) in relation to motor severity or cognitive impairment in Parkinson’s disease (PD).

Background: Mitochondria function affects PD through the accumulation of pathogenic alpha-synuclein, oxidative stress, and impaired autophagy. The mtDNA-CN refers to the number of copies of mitochondrial DNA present in a cell, which is an easily assessable proxy for mitochondrial function. Previous studies showed that blood mtDNA-CN was lower in patients with PD and Alzheimer’s disease than in healthy controls. However, little is known about the correlation between mtDNA-CN and the severity of motor symptoms or dementia in PD.

Method: We recruited 405 patients with PD and 200 healthy individuals between 2018 and 2020. We estimated mtDNA-CN using WGS from blood. We defined mtDNA-CN as [2*mitochondrial DNA coverage/nuclear DNA coverage] (Figure1). The Wilcoxon signed-rank test was performed to compare mtDNA-CN between PD and healthy controls. Pearson correlation analysis was performed to find the association between mtDNA-CN and motor severity (UPDRS II+III at medication off state, and Hoehn and Yahr stage (H&Y)).  In a subgroup of PD patients who were diagnosed with PD within three years, Cox regression analysis was performed to assess the progression of motor symptoms from H&Y 2.5 to 3, and the progression to dementia according to mtDNA-CN, after adjusting for age and sex.

Results: The level of mtDNA-CN was significantly lower in PD than in healthy controls (median 179.1 vs. 211.6, P=1.1×10-5) (Figure2). The level of mtDNA-CN per cell was negatively correlated with UPDRS (II+III) scores (r=-0.17, P=0.023), and H&Y stage (r=-0.10, P=0.04). Among 210 patients with PD, who were within 3 years from PD diagnosis, 21 (10.0%) patients developed dementia. Using Cox regression analysis, we found that patients in the lowest tertile of mtDNA-CN were associated with higher risk of dementia, compared to those in the highest tertile (HR=3.73, CI 1.04-13.4, P=0.043) (Figure3). However, mtDNA-CN was not associated with progression to H&Y 3.

Conclusion: Our study provides significant insights into blood mtDNA-CN as the potential diagnostic biomarker for PD, as well as a prognostic marker for dementia in PD.

Figure1

Figure2

Figure3

To cite this abstract in AMA style:

S. Jo, JH. Oh, S. Lee, J. Lee, CO. Sung, SJ. Chung. Mitochondrial DNA copy number is associated with the severity of motor symptoms and dementia in Parkinson’s disease [abstract]. Mov Disord. 2023; 38 (suppl 1). https://www.mdsabstracts.org/abstract/mitochondrial-dna-copy-number-is-associated-with-the-severity-of-motor-symptoms-and-dementia-in-parkinsons-disease/. Accessed June 23, 2025.
  • Tweet
  • Click to email a link to a friend (Opens in new window) Email
  • Click to print (Opens in new window) Print

« Back to 2023 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/mitochondrial-dna-copy-number-is-associated-with-the-severity-of-motor-symptoms-and-dementia-in-parkinsons-disease/

Most Viewed Abstracts

  • This Week
  • This Month
  • All Time
    • Covid vaccine induced parkinsonism and cognitive dysfunction
    • What is the appropriate sleep position for Parkinson's disease patients with orthostatic hypotension in the morning?
    • Life expectancy with and without Parkinson’s disease in the general population
    • The hardest symptoms that bother patients with Parkinson's disease
    • Patients with Essential Tremor Live Longer than their Relatives
    • Effect of marijuana on Essential Tremor: A case report
    • Increased Risks of Botulinum Toxin Injection in Patients with Hypermobility Ehlers Danlos Syndrome: A Case Series
    • Covid vaccine induced parkinsonism and cognitive dysfunction
    • Estimation of the 2020 Global Population of Parkinson’s Disease (PD)
    • Patients with Essential Tremor Live Longer than their Relatives
    • Help & Support
    • About Us
    • Cookies & Privacy
    • Wiley Job Network
    • Terms & Conditions
    • Advertisers & Agents
    Copyright © 2025 International Parkinson and Movement Disorder Society. All Rights Reserved.
    Wiley