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http://hdl.handle.net/10662/21304
Títulos: | Detection of rare genetic variations in the promoter regions of the ATG16L gene in Parkinson’s patients |
Autores/as: | Gómez Martín, Ana María Fuentes Rodríguez, José Manuel Jordán Bueso, Joaquín Galindo Anaya, María Francisca Fernández García, José Luis |
Palabras clave: | ATG16L1;Autofagia;Variantes genéticas;Inserción;Mutación;Enfermedad de Parkinson;Polimorfismo;Promotor;Secuenciación;Autophagy;Genetic variants;Insertion;Mutation;Parkinson’s disease;Polymorphism;Promoter;Sequencing |
Fecha de publicación: | 2023 |
Editor/a: | Elsevier |
Resumen: | Mutations in the ATG genes have been related to impair autophagic function, contributing to the sporadic onset of Parkinsońs Disease (PD). However, scarce studies have been performed about ins/del within the regulatory domains of the autophagy genes in sporadic PD patients. This study was aimed to found ins/del within part of the crucial core autophagy promotor gene region of the ATG16L1 in a groups of sporadic PD patients. After developing a genetic marker to find ins/del using fragment size analysis, a rare mutation by insertion (0.45%) was reported in the patients. This mutation was characterized by sequencing. No others ins/del were found. As a results, the frequency of this insertion should be considered as a rare genetic variant. An in silico analysis also highlighting the usefulness of a search GDV which revealed multiples ins/del within ATG16L1 promoter. Furthermore, these genetic insertions could be found in patients with sporadic PD in the ATG161L promoter gene. When a breakpoint as deletions, insertions or tandem duplication are located within a functional gene interruption of the gene and a loss of function was expected but removing or altering in the regulatory sequence can influence the expression or the regulation of a nearby gene which may impair healthy due to dosage effects in sporadic diseases. |
URI: | http://hdl.handle.net/10662/21304 |
DOI: | 10.1016/j.neulet.2023.137195 |
Colección: | DENFE - Artículos |
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