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http://hdl.handle.net/10609/127287
Title: | Análisis de datos NGS para la determinación de nuevos factores moleculares implicados en la adrenoleucodistrofia |
Author: | Burgos Ruiz, Ana María |
Tutor: | Rojano Rivera, María Elena |
Others: | Prados Carrasco, Ferran |
Abstract: | X-linked adrenoleukodystrophy (X-ALD) is a genetically well-defined disease, but the clinical phenotype of which has hitherto unexplained great heterogeneity. Mutations in ABCD1 reflect one of the central phenotypes seen in patients with X-ALD, adrenomyeloneuropathy (AMN). However, these mutations alone do not explain the phenotype corresponding to cerebral adrenoleukodystrophy (CALD). Different unknown mechanisms appear to be involved in the disease. In order to determine the genetic and molecular factors involved in the development of CALD, expression, co-expression and functional enrichment analyzes have been carried out based on the sequencing data. To this end, the DEgenes Hunter tool was used to compare, firstly, 18 samples of heterogeneous origin and, secondly, six samples from the same cell type to avoid the bias resulting from the different cell types. The analysis revealed that one of the most inhibited genes is CNTN4, which codes for a cell adhesion protein involved in the formation of connections in the developing nervous system. Furthermore, the hypothesis is proposed that the decrease in lysophospholipidic acid, a signal molecule that participates in cell adhesion, could be participating in the demyelination characteristic of the disease. |
Keywords: | NGS RNA-seq adrenoleukodystrophy |
Document type: | info:eu-repo/semantics/masterThesis |
Issue Date: | 5-Jan-2021 |
Publication license: | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ |
Appears in Collections: | Trabajos finales de carrera, trabajos de investigación, etc. |
Files in This Item:
File | Description | Size | Format | |
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aburgosruTFM0121memoria.pdf | Memoria del TFM | 3 MB | Adobe PDF | View/Open |
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