Article
Evaluating the causal effect of mitochondrial dysfunction on Alzheimer's disease and Parkinson's disease using polygenic risk scores and Mendelian randomization.
Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 May 2026
Chatterjee Aadrita, Alvarez Brian, Sharma Rakshya U, Jonson Caroline, Wilkins Heather M, Pa Judy, Swerdlow Russell H, Goate Alison, Yaffe Kristine, Andrews Shea J
Abstract excerpt
INTRODUCTION: Mitochondrial DNA copy number (mtDNAcn), a measure of mitochondrial genomes per nucleated cell, has an unclear causal relationship with Alzheimer's disease (AD) and Parkinson's disease (PD). We integrated genetic correlation, polygenic risk scores (PRSs), and Mendelian randomization (MR) to assess whether mtDNAcn influences the risk of AD and PD, and evaluate how study-specific factors in mtDNAcn...
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