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2022-04-28

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cc-by (c) Lobón, Irene et al., 2022
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/194370

Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes

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Recurs relacionat

https://doi.org/10.3389/fragi.2022.851039

Resum

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.

Matèries

Malaltia de Parkinson, Mutació (Biologia), Genètica

Matèries (anglès)

Parkinson's disease, Mutation (Biology), Genetics

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Col·leccions

Articles publicats en revistes (Genètica, Microbiologia i Estadística)

Citació

LOBÓN, Irene, et al. Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes. Frontiers in Aging Neuroscience. 2022. Vol. 3. ISSN 1663-4365. [consulted: 14 of August of 2026]. Available at: https://hdl.handle.net/2445/194370

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