Identificador persistente para citar o vincular este elemento:
http://hdl.handle.net/10662/20351
| Títulos: | Asthma and allergic rhinitis associate with the rs2229542 variant that induces a p.Lys90Glu mutation and compromises AKR1B1 protein levels |
| Autores/as: | García Martín, Elena Sánchez Gómez, Francisco Javier Amo Marín, Gemma García Menaya, Jesús Miguel Cordobés Durán, Concepción Ayuso Parejo, Pedro Plaza Serón, María Carmen Blanca Gómez, Miguel Campo Mozo, Paloma Esguevillas Cansino, Gara Pajares Tarancón, María Ángeles García-Agúndez Pérez-Coca, José Augusto Pérez Sala, Dolores |
| Palabras clave: | aldosereductase,allergy,asthma,proteinlevelsandstability,rhinitis,variant |
| Fecha de publicación: | 2018 |
| Editor/a: | Wiley |
| Resumen: | Asthmaandrhinitisaretwoofthemainclinicalmanifestationsofallergy,inwhichincreasedreac-tiveoxygenorelectrophilicspeciescanplayapathogenicrole.Aldosereductase(AKR1B1)isinvolvedinaldehydedetoxificationandredoxbalance.RecentevidencefromanimalmodelspointstoaroleofAKR1B1inasthmaandrhinitis,butitsinvolvementinhumanallergyhasnotbeenaddressed.Here,theputativeassociationofallergicrhinitisandasthmawithAKR1B1variantshasbeenexploredbyanalysisofsingle-strandvariantsontheAKR1B1genesequencein526healthysubjectsand515patientswithallergicrhinitis,366ofwhomalsohadasthma.Wefoundthatthers2229542variant,introducingthep.Lys90Glumutation,wassignificantlymorefrequentinaller-gicpatientsthaninhealthysubjects.Additionally,incellstransfectedwithexpressionvectorscar-ryingthewild-typeorthep.Lys90GluvariantofAKR1B1,themutantconsistentlyattainedlowerproteinlevelsthanthewild-typeandshowedacompromisedthermalstability.Takentogether,ourresultsshowthatthers2229542variantassociateswithasthmaandrhinitis,andhampersAKR1B1proteinlevelsandstability.Thisunveilsaconnectionbetweenthegeneticvariabilityofaldosereductaseandallergicprocesses. |
| URI: | http://hdl.handle.net/10662/20351 |
| ISSN: | 1098-1004 1059-7794 |
| Colección: | DTMQU - Artículos |
Archivos
| Archivo | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| H2018 Human Mutation.pdf | 2,57 MB | Adobe PDF | Descargar |
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