DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria
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| Autores: | , |
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| Formato: | artículo original |
| Fecha de Publicación: | 2019 |
| Descripción: | Mutations in DNA repair enzymes can cause two neurological clinical manifestations: a developmental impairment and a degenerative disease. Polynucleotide kinase 3′-phosphatase (PNKP) is an enzyme that is actively involved in DNA repair in both single and double strand break repair systems. Mutations in this protein or others in the same pathway are responsible for a complex group of diseases with a broad clinical spectrum. Besides, mitochondrial dysfunction also has been consolidated as a hallmark of brain degeneration. Here we provide evidence that supports a shared role between mitochondrial dysfunction and DNA repair defects in the pathogenesis of the nervous system. As models, we analyze PNKP-related disorders, focusing on Charcot-Marie-Tooth disease and ataxia. A better understanding of the molecular dynamics of this relationship could provide improved diagnosis and treatment for neurological diseases. |
| País: | Kérwá |
| Institución: | Universidad de Costa Rica |
| Repositorio: | Kérwá |
| OAI Identifier: | oai:kerwa.ucr.ac.cr:10669/81153 |
| Acceso en línea: | https://translationalneurodegeneration.biomedcentral.com/articles/10.1186/s40035-019-0156-x https://hdl.handle.net/10669/81153 |
| Palabra clave: | DNA Repair Mitochondrial dysfunction Neurodegeneration Ataxia PNKP |