RT Journal Article
T1 Variant rs4149584 (R92Q) of the TNFRSF1A gene in patients with familial multiple sclerosis
A1 Gomez Pinedo, Ulises
A1 Matías-Guiu Guía, Jorge
A1 Torre Fuentes, Laura
A1 Montero Escribano, Paloma
A1 Hernández Lorenzo, Laura
A1 Pytel, Vanessa
A1 Maietta, Paolo
A1 Álvarez de Andrés, Sara
A1 Sanclemente Alamán, Inmaculada
A1 Moreno Jimenez, Lidia
A1 Ojeda Hernández, Doddy Denise
A1 Villar-Gómez, Natalia
A1 Benito-Martin, María Soledad
A1 Selma-Calvo, Belén
A1 Matías Guiu, Jordi
A1 Vidorreta-Ballesteros, Lucía
A1 Madrid González, Ricardo
AB Genomic studies have identified numerous genetic variants associated with sus-ceptibility to multiple sclerosis (MS); however, each one explains only a small percentage of therisk of developing the disease. These variants are located in genes involved in specific path-ways, which supports the hypothesis that the risk of developing MS may be linked to alterationsin these pathways, rather than in specific genes. We analyzed the role of the TNFRSF1A gene,which encodes one of the TNF-  receptors involved in a signaling pathway previously linked toautoimmune disease.Methods: We included 138 individuals from 23 families including at least 2 members with MS,and analyzed the presence of exonic variants of TNFRSF1A through whole-exome sequencing.We also conducted a functional study to analyze the pathogenic mechanism of variant rs4149584(-g.6442643C > G, NM 001065.4:c.362 G > A, R92Q) by plasmid transfection into human oligo-dendroglioma (HOG) cells, which behave like oligodendrocyte lineage cells; protein labelingwas used to locate the protein within cells. We also analyzed the ability of transfected HOGcells to proliferate and differentiate into oligodendrocytes.
SN 2173-5808
YR 2022
FD 2022
LK https://hdl.handle.net/20.500.14352/97475
UL https://hdl.handle.net/20.500.14352/97475
LA eng
NO Gomez-Pinedo, U., et al. «Variant Rs4149584 (R92Q) of the TNFRSF1A Gene in Patients with Familial Multiple Sclerosis». Neurología (English Edition), agosto de 2022, p. S2173580822000876. https://doi.org/10.1016/j.nrleng.2022.07.002.
DS Docta Complutense
RD 13 abr 2025