Mitochondrial genome abundance is associated with Alzheimer’s disease neuropathological burden and cognitive function

Mitochondrial DNA copy number (mtDNAcn) is a measure of mitochondrial genome abundance that is associated with age related diseases. mtDNA can also carry mutations that affect all copies of the mtDNA or only a fraction of the mtDNA molecules (heteroplasmy, mtHz) within an individual cell. To evaluate the role of mitochondrial dysfunction in Alzheimer’s disease (AD) we investigated the association of mtDNAcn levels and mtHz burden with AD neuropathological change and cognitive function.