Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay

 

Autores
Weber, Megan L.; Hsin, Hong Yuan; Kalay, Ersan; Brožková, Dana Š; Shimizu, Takehiko; Bayram, Merve; Deeley, Kathleen; Küchler, Erika C.; Forella, Jessalyn; Ruff, Timothy D.; Trombetta, Vanessa M.; Sencak, Regina C.; Hummel, Michael; Briseño Ruiz, Jessica; Revu, Shankar K.; Granjeiro, José M.; Antunes, Leonardo S.; Antunes, Livia A.; Abreu, Fernanda V.; Costabel, Marcelo C.; Tannure, Patricia N.; Koruyucu, Mine; Patir, Asli; Poletta, Fernando Adrián; Mereb, Juan C.; Castilla, Eduardo Enrique; Orioli, Iêda M.; Marazita, Mary L.; Ouyang, Hongjiao; Jayaraman, Thottala; Seymen, Figen; Vieira, Alexandre R.
Tipo de recurso
artículo
Estado
Versión publicada
Año de publicación
2014
País
Argentina
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio
CONICET Digital (CONICET)
Descripción
BACKGROUND: Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans. METHODS: We tested for association between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was expressed in whole saliva, if ESRRB was associated with the microhardness of the dental enamel, and if ESRRB was expressed during enamel development of mice. RESULTS: Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. Expression levels of ESRRB in whole saliva samples showed differences depending on sex and dental caries experience. CONCLUSIONS: The common etiology of dental caries and hearing impairment provides a venue to assist in the identification of individuals at risk to either condition and provides options for the development of new caries prevention strategies, if the associated ESRRB genetic variants are correlated with efficacy.
Idioma
inglés
OAI Identifier
oai:ri.conicet.gov.ar:11336/35190
Enlace del recurso
http://hdl.handle.net/11336/35190
Nivel de acceso
Acceso abierto
Materia
Dental development
Deafness
Ear development
Linkage disequilibrium
Dental caries
Genetics
Polymorphisms
Inmunología
Medicina Básica
CIENCIAS MÉDICAS Y DE LA SALUD