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Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss

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dc.contributor.author Espino Guarch, Meritxell
dc.contributor.author Fons-Llitjós, Mariona
dc.contributor.author Murillo-Cuesta, Silvia
dc.contributor.author Errasti-Murugarren, Ekaitz
dc.contributor.author Celaya, Adelaida M.
dc.contributor.author Girotto, Giorgia
dc.contributor.author Vuckovic, Dragana
dc.contributor.author Mezzavilla, Massimo
dc.contributor.author Vilches, Clara
dc.date.accessioned 2019-11-14T13:24:35Z
dc.date.available 2019-11-14T13:24:35Z
dc.date.issued 2018
dc.identifier.citation Espino Guarch M, Font-Llitjós M, Murillo-Cuesta S, Errasti-Murugarren E, Celaya AM, Girotto G et al. Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss. eLife. 2018;7:e31511. DOI: 10.7554/eLife.31511
dc.identifier.issn 2050-084X
dc.identifier.uri http://hdl.handle.net/10230/42849
dc.description.abstract Age-related hearing loss (ARHL) is the most common sensory deficit in the elderly. The disease has a multifactorial etiology with both environmental and genetic factors involved being largely unknown. SLC7A8/SLC3A2 heterodimer is a neutral amino acid exchanger. Here, we demonstrated that SLC7A8 is expressed in the mouse inner ear and that its ablation resulted in ARHL, due to the damage of different cochlear structures. These findings make SLC7A8 transporter a strong candidate for ARHL in humans. Thus, a screening of a cohort of ARHL patients and controls was carried out revealing several variants in SLC7A8, whose role was further investigated by in vitro functional studies. Significant decreases in SLC7A8 transport activity was detected for patient's variants (p.Val302Ile, p.Arg418His, p.Thr402Met and p.Val460Glu) further supporting a causative role for SLC7A8 in ARHL. Moreover, our preliminary data suggest that a relevant proportion of ARHL cases could be explained by SLC7A8 mutations.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher eLife
dc.relation.ispartof eLife. 2018;7:e31511
dc.rights © 2018, Espino Guarch et al. This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use and redistribution provided that the original author and source are credited.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.7554/eLife.31511
dc.subject.keyword LAT2
dc.subject.keyword Slc7a8
dc.subject.keyword Age-related hearing loss
dc.subject.keyword Auditory brainstem response
dc.subject.keyword Chromosomes
dc.subject.keyword Genes
dc.subject.keyword Hearing loss
dc.subject.keyword Human
dc.subject.keyword Human biology
dc.subject.keyword Knock-out mouse model
dc.subject.keyword Medicine
dc.subject.keyword Mouse
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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