Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation

Journal: Nature Communications

Published: 2019-07-12

DOI: 10.1038/s41467-019-11000-7

Affiliations: 9

Authors: 12

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Research Highlight

Brain mutations linked to Alzheimer’s disease

© Rick Friedman/Getty

© Rick Friedman/Getty

Mutations that arise in the brain during the course of ageing seem to contribute to the development of Alzheimer’s disease.

A team co-led by KAIST scientists analysed the DNA from post-mortem brain samples of 52 people who had Alzheimer’s and 11 age-matched, unaffected controls.

They found that while the total number of point mutations did not differ significantly between individuals with and without the neurodegenerative disease, people with Alzheimer’s had accumulated mutations in genes implicated in the disease process.

Specifically, the researchers showed that various gene changes contribute to the aggregation of tau proteins into tangles that interfere with brain signalling and communication. In a series of functional assays, they also drilled down into the molecular mechanism by which one of these mutations leads to tau accumulation.

The novel insights into the genetic factors behind Alzheimer’s could lead to new strategies for treating the disease.

Supported content

  1. Nature Communications 10, 3090 (2019). doi: 10.1038/s41467-019-11000-7
Institutions Share
KAIST BioMedical Science and Engineering Interdisciplinary Program (BSEIP), South Korea 0.21
KISTI Center for Supercomputing Applications, South Korea 0.17
KAIST Graduate School of Medical Science and Engineering, South Korea 0.13
College of Medicine (CM), SNU, South Korea 0.08
Neuroscience Research Institute, SNU, South Korea 0.08
Department of Biomedical Systems Informatics, Yonsei University, South Korea 0.08
Brain Korea 21 Project for Medical Science, Yonsei University, South Korea 0.08
Brain Research Laboratory, SMRI, United States of America (USA) 0.08
Center for Cognition and Sociality (CCS), IBS, South Korea 0.08