---
title: "Rates and mechanisms of age-related somatic mutation in normal and Alzheimer brain"
id: "6765"
type: "study"
slug: "sa000051"
published_at: "2024-05-15T15:27:53+00:00"
modified_at: "2026-03-26T15:57:28+00:00"
url: "https://dss.niagads.org/studies/sa000051/"
markdown_url: "https://dss.niagads.org/studies/sa000051.md"
excerpt: "Characterizing the mechanisms of somatic mutations in the brain is important for understanding aging and disease, but little is known about the mutational patterns of different cell types. We performed whole-genome sequencing of 86 single oligodendrocytes, 20 mixed glia, and..."
---

## Description

Characterizing the mechanisms of somatic mutations in the brain is important for understanding aging and disease, but little is known about the mutational patterns of different cell types. We performed whole-genome sequencing of 86 single oligodendrocytes, 20 mixed glia, and 56 single neurons from neurotypical individuals (0.4 to 104 years old) and compared the rates and signatures of somatic single nucleotide variants (sSNVs) and small insertions and deletions (indels) from each cell type. We further correlated this data with single-cell RNA (scRNA-seq) and chromatin accessibility (scATAC-seq) data generated from the same brains to compare the mutagenic processes in glia and neurons.

## PI

Christopher A. Walsh, MD, PhD  
 Boston Children’s Hospital

## Associated Datasets

- [NG00162 - Oligodendrocytes single-cell whole genome and RNA sequencing](https://dss.niagads.org/datasets/ng00162/) Characterizing the mechanisms of somatic mutations in the brain is important for understanding aging and disease, but little is known about the mutational patterns of different cell types. We performed… [Learn more](https://dss.niagads.org/datasets/ng00162/)

## Associated Sample Sets

- [snd10084 - Oligodendrocytes single-cell whole genome and RNA sequencing](https://dss.niagads.org/sample-sets/snd10084/) Characterizing the mechanisms of somatic mutations in the brain is important for understanding aging and disease, but little is known about the mutational patterns of different cell types. We performed… [Learn more](https://dss.niagads.org/sample-sets/snd10084/)

## Cohorts

- [Boston VA PTSD Brain Bank (VABBB)](https://dss.niagads.org/cohorts/boston-va-ptsd-brain-bank-vabbb/) The Department of Veterans Affairs (VA) created the National PTSD Brain Bank as part of its commitment to understanding and treating posttraumatic stress disorder (PTSD). The PTSD Brain Bank is… [Learn more](https://dss.niagads.org/cohorts/boston-va-ptsd-brain-bank-vabbb/)
- [NIH Neurobiobank/University of Maryland (UMB-BTB)](https://dss.niagads.org/cohorts/nih-neurobiobank-university-of-maryland/) The National Institutes of Health have established and funded a network of six Brain and Tissue Banks referred to as the NIH NeuroBioBank. Each of the banks collects and distributes… [Learn more](https://dss.niagads.org/cohorts/nih-neurobiobank-university-of-maryland/)

## Grants

R01AG070921

## Acknowledgement

### Acknowledgment statement for any data distributed by NIAGADS:

Data for this study were prepared, archived, and distributed by the National Institute on Aging Alzheimer's Disease Data Storage Site (NIAGADS) at the University of Pennsylvania (U24-AG041689), funded by the National Institute on Aging.

### For investigators using Rates and mechanisms of age-related somatic mutation in normal and Alzheimer brain data:

Sequencing data from this study was generated with support from the National Institute on Aging (R01AG070921) to Christopher A. Walsh at Boston Children’s Hospital.

## Publications

- Ganz J. **Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes.***Cell. 2024 Apr 11.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/38503282/)