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Cancers Originate from Somatic Mutations in a Single Cell

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Updated: May 24, 2025

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Neuronal somatic mutations are increased in multiple sclerosis lesions.

Allan Motyer^1,2, Stacey Jackson³, Bicheng Yang⁴

¹Melbourne Integrative Genomics, The University of Melbourne, Melbourne, Victoria, Australia.

Nature Neuroscience

|March 4, 2025

Summary

This summary is machine-generated.

Neuroinflammation accelerates genetic mutations in brain cells of multiple sclerosis (MS) patients. This study reveals a higher rate of somatic single-nucleotide variants (sSNVs) in MS lesions, suggesting inflammation is mutagenic.

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Magnetic Resonance Imaging of Multiple Sclerosis at 7.0 Tesla

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Published on: February 19, 2021

Area of Science:

Neuroscience
Genetics
Immunology

Background:

Neuroinflammation is a key driver of neurodegeneration and disease progression in multiple sclerosis (MS).
The precise mechanisms linking neuroinflammation to neuronal damage in MS are not fully understood.
Somatic mutagenesis in neurons has not been extensively studied in the context of MS.

Purpose of the Study:

To investigate the presence and rate of somatic single-nucleotide variants (sSNVs) in neurons from multiple sclerosis (MS) patients.
To determine if neuroinflammation in MS lesions contributes to increased somatic mutagenesis.
To identify mutational signatures associated with sSNVs in MS neurons.

Main Methods:

Analysis of somatic single-nucleotide variants (sSNVs) in the genomes of 106 single neurons.
Comparison of sSNV rates between neurons from chronic MS lesions, normal-appearing MS tissue, and control brain tissue.
Mutational signature analysis to infer underlying mutagenic processes.

Main Results:

Neurons from chronic MS lesions exhibited a significantly higher rate of sSNVs (43.9 per year) compared to normal-appearing MS and control tissues (2.5 times faster).
This accelerated mutation rate in lesion neurons equates to approximately 1,291 excess sSNVs by age 70.
Mutational signature analysis revealed an age-associated signature in MS lesion neurons, indicating mutagenic processes linked to inflammation.

Conclusions:

Neuroinflammation in the multiple sclerosis (MS) brain is mutagenic to neurons.
Increased somatic mutagenesis in MS lesions may contribute to neuronal dysfunction and disease progression.
These findings highlight a novel link between inflammation, genetic instability, and neurodegeneration in MS.