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Title: | Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes |
Author: | Lobón, Irene Solís-Moruno, Manuel Juan, David Muhaisen, Ashraf Abascal, Federico Esteller-Cucala, Paula García-Pérez, Raquel Martí, Maria Josep Tolosa, Eduardo Ávila, Jesús Rahbari, Raheleh Marques-Bonet, Tomas Casals López, Ferran Soriano García, Eduardo |
Keywords: | Malaltia de Parkinson Mutació (Biologia) Genètica Parkinson's disease Mutation (Biology) Genetics |
Issue Date: | 28-Apr-2022 |
Publisher: | Frontiers Media |
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. |
Note: | Reproducció del document publicat a: https://doi.org/10.3389/fragi.2022.851039 |
It is part of: | Frontiers in Aging Neuroscience, 2022, vol. 3 |
URI: | http://hdl.handle.net/2445/194370 |
Related resource: | https://doi.org/10.3389/fragi.2022.851039 |
ISSN: | 1663-4365 |
Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) |
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