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	2018
dc.identifier.citation	Espino Guarch M, Font-Llitjós M, Murillo-Cuesta S, Errasti-Murugarren E, Celaya AM, Girotto G, Vuckovic D, Mezzavilla M, Vilches C, Bodoy S, Sahún I, González L, Prat E, Zorzano A, Dierssen M, Varela-Nieto I, Gasparini P, Palacín M, Nunes V. Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss. Elife. 2018; 7. pii: e31511. DOI 10.7554/eLife.31511
dc.identifier.citation	2050-084X
dc.identifier.citation	http://dx.doi.org/10.7554/eLife.31511
dc.identifier.uri	http://hdl.handle.net/10230/42849
dc.format	application/pdf
dc.language.iso	eng
dc.publisher	eLife
dc.relation	Elife. 2018; 7. pii: e31511
dc.rights	info:eu-repo/semantics/openAccess
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	http://creativecommons.org/licenses/by/4.0/
dc.subject	LAT2
dc.subject	Slc7a8
dc.subject	Age-related hearing loss
dc.subject	Auditory brainstem response
dc.subject	Chromosomes
dc.subject	Genes
dc.subject	Hearing loss
dc.subject	Human
dc.subject	Human biology
dc.subject	Knock-out mouse model
dc.subject	Medicine
dc.subject	Mouse
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.type	info:eu-repo/semantics/publishedVersion
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.

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