ArticleFrontiers in aging2022
Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes.
Article in Frontiers in aging, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 13 citations in OpenAlex.
- Somatic mosaicism in the brain: linking development, ageing and neurodegeneration.Nature reviews. Neurology · 2026Review
- The hidden Markov model and its applications in bioinformatics analysis.Genes & diseases · 2026Review
- Compound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Probability and Neurodegeneration: Alzheimer's Disease and Huntington's Disease.Brain sciences · 2025Article
- Characterization of prion strains and peripheral prion infectivity patterns in E200K genetic CJD patients.Acta neuropathologica · 2025Article
- Parkinson's Disease is Predominantly a Genetic Disease.Journal of Parkinson's disease · 2024Review
- Transcriptional mutagenesis of α-synuclein caused by DNA oxidation in Parkinson's disease pathogenesis.Acta neuropathologica · 2023Article
- Elevated E200K Somatic Mutation of the Prion Protein Gene (International journal of molecular sciences · 2023Article
- Mitigating age-related somatic mutation burden.Trends in molecular medicine · 2023Review
- Somatic genetic variation in healthy tissue and non-cancer diseases.European journal of human genetics : EJHG · 2023Review
- The toxic metal hypothesis for neurological disorders.Frontiers in neurology · 2023Article
- Next-generation sequencing methodologies to detect low-frequency mutations: "Catch me if you can".Mutation research. Reviews in mutation researchReview
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The role of somatic mutations in complex diseases, including neurodevelopmental and neurodegenerative disorders, is becoming increasingly clear. However, to date, no study has shown their relation to Parkinson disease's phenotype. To explore the relevance of embryonic somatic mutations in sporadic Parkinson disease, we performed whole-exome sequencing in blood and four brain regions of ten patients. We identified 59 candidate somatic single nucleotide variants (sSNVs) through sensitive calling and a careful filtering strategy (COSMOS). We validated 27 of them with amplicon-based ultra-deep sequencing, with a 70% validation rate for the highest-confidence variants. The identified sSNVs are in genes with synaptic functions that are co-expressed with genes previously associated with Parkinson disease. Most of the sSNVs were only called in blood but were also found in the brain tissues with ultra-deep amplicon sequencing, demonstrating the strength of multi-tissue sampling designs.
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