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Ann Neurol. 2016 Aug;80(2):301-6. doi: 10.1002/ana.24709. Epub 2016 Jul 13.

Mitochondrial DNA mutations increase in early stage Alzheimer disease and are inconsistent with oxidative damage.

Author information

1
Department of Pathology, University of Washington, Seattle, WA.
2
Department of Pathology, Stanford University, Palo Alto, CA.

Abstract

Mitochondrial dysfunction and oxidative damage are commonly associated with early stage Alzheimer disease (AD). The accumulation of somatic mutations in mitochondrial DNA (mtDNA) has been hypothesized to be a driver of these phenotypes, but the detection of increased mutation loads has been difficult due to a lack of sensitive methods. We used an ultrasensitive next generation sequencing technique to measure the mutation load of the entire mitochondrial genome. Here, we report a significant increase in the mtDNA mutation frequency in the hippocampus of early stage AD, with the cause of these mutations being consistent with replication errors and not oxidative damage. Ann Neurol 2016;80:301-306.

PMID:
27315116
PMCID:
PMC4982791
DOI:
10.1002/ana.24709
[Indexed for MEDLINE]
Free PMC Article

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