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

Megan Weber(University of Pittsburgh), Hong Yuan Hsin(University of Pittsburgh), Ersan Kalay(Karadeniz Technical University), Dana Šafka Brožková(Charles University), Takehiko Shimizu(Nihon University), Merve Bayram(Istanbul University), Kathleen Deeley(University of Pittsburgh), Érika Calvano Küchler(University of Pittsburgh), Jessalyn Forella(University of Pittsburgh), Timothy D. Ruff(University of Pittsburgh), Vanessa M. Trombetta(University of Pittsburgh), Regina C. Sencak(University of Pittsburgh), Michael Hummel(University of Pittsburgh), Jessica Briseño-Ruiz(University of Pittsburgh), Shankar Revu(University of Pittsburgh), José Mauro Granjeiro(Universidade Federal Fluminense), Leonardo Santos Antunes(Universidade Federal Fluminense), Lívia Azeredo Alves Antunes(Universidade Federal Fluminense), Fernanda Volpe de Abreu(Universidade Federal Fluminense), Marcelo C. Costa(Universidade Federal do Rio de Janeiro), Patrícia Nivoloni Tannure(Universidade Salgado de Oliveira), Mine Koruyucu(Istanbul University), Aslı Patir(Istanbul University), Fernando A. Poletta(Centro de Educación Médica e Investigaciones Clínicas Norberto Quirno), Juan C. Mereb, Eduardo E. Castilla(Fundação Oswaldo Cruz), Iêda M. Orioli(Universidade Federal do Rio de Janeiro), Mary L. Marazita(University of Pittsburgh), Hongjiao Ouyang(University of Pittsburgh), Thottala Jayaraman(University of Pittsburgh), Figen Seymen(Istanbul University), Alexandre R. Vieira(University of Pittsburgh)
BMC Medical Genetics
July 15, 2014
10.1186/1471-2350-15-81
Cited by 56Open Access
Full Text

Abstract

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.

Related Papers

No related papers found

Powered by citation graph analysis