Work

Somatic mutations in neurodegeneration: from detection to disease mechanisms

Year: 2026

Type: article

Abstract: Somatic mutations are postzygotic DNA alterations that accumulate throughout development and aging, underlying somatic mosaicism across cell populations. Neurons are particularly vulnerable due to oxidative stress, high metabolic demand, and age-related decline in DNA damage response pathways, promoting cell-type-specific dysfunction. Somatic repeat instability is an established driver in Huntington’s disease, yet the extent and functional impact of somatic mutagenesis in Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis remains unresolved. This article highlights how advances in single-cell and single-molecule sequencing, integrated with computational and machine learning approaches, support detecting ultra-rare variants and establishing causal links between somatic mutagenesis and neurodegeneration.

Source: BMC Biology

DOI: 10.1186/s12915-026-02778-2

Authors: Anna Piaszyk-Borychowska, Weronika Śliwińska, Marta Olejniczak

Institution: Institute of Bioorganic Chemistry, Polish Academy of Sciences

Language: English

Topic: Single-cell and spatial transcriptomics

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,690