Related Experiment Video
Updated: Jan 16, 2026
Author Spotlight: Establishing a New Fluorescence-Based Protocol for In Vivo Mitochondrial Morphology Analysis in Parkinson's Disease
Published on: June 23, 2023
Validation of a Mitochondrial Polygenic Score for Parkinson's Disease
Joshua Chin Ern Ooi1, Yi Wen Tay2, Ai Huey Tan3,4
1Neurology Unit, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia.
Background:
Mitochondrial dysfunction is a key player in Parkinson's disease (PD) pathogenesis. Mitochondrial polygenic scores (MGS) may be associated with PD but require validation across diverse populations.
Objective:
To validate the association between the MGS, PD status and age-at-onset (AAO) in idiopathic and LRRK2-PD across various ancestries.
Methods:
We analyzed data from 17,129 PD patients and 13,872 healthy individuals across 10 ancestries within the Global Parkinson's Disease Genetic Program. We used regression models to assess the association between MGS, PD status and AAO.
Results:
The MGS was associated with iPD in Europeans (β=0.19, SE=0.02, p<2.0×10-16) and Ashkenazi Jews (β=0.26, p=3.7×10-4) but not in other populations. Additionally, the MGS was strongly associated with LRRK2-PD status (β=0.82, p=2.0×10-16). No associations with AAO were observed.
Conclusions:
The MGS is robustly associated with iPD status in Europeans and Ashkenazi Jews and with LRRK2-PD status. Population-specific MGS are needed to improve accuracy in other ancestries.
More Related Videos
07:24Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
08:56Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
Related Concept Videos
02:59Animal Mitochondrial Genetics
01:18Polygenic Traits