Work

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

Year: 2016

Type: article

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.

Source: Annals of Neurology

DOI: 10.1002/ana.24709

Authors: Jake G. Hoekstra, Michael J. Hipp, Thomas J. Montine, Scott R. Kennedy

Institutions: University of Washington, Stanford University

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: University of Washington, National Institute on Aging