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Hearing Disorders: HELP
Articles by Carmen Martín-Sierra
Based on 1 article published since 2010
(Why 1 article?)
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Between 2010 and 2020, Carmen Martín-Sierra wrote the following article about Hearing Disorders.
 
+ Citations + Abstracts
1 Article A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease. 2016

Martín-Sierra, Carmen / Requena, Teresa / Frejo, Lidia / Price, Steven D / Gallego-Martinez, Alvaro / Batuecas-Caletrio, Angel / Santos-Pérez, Sofía / Soto-Varela, Andrés / Lysakowski, Anna / Lopez-Escamez, Jose A. ·Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, Granada 18016, Spain. · Dept. of Anatomy and Cell Biology, Univ. of Illinois at Chicago, Chicago, IL 60612, USA. · Department of Otolaryngology, Hospital Universitario Salamanca 37007, Spain. · Division of Otoneurology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, Santiago de Compostela 15706, Spain. · Dept. of Otolaryngology-Head and Neck Surgery, Univ. of Illinois at Chicago, Chicago IL 60612, USA. · Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, Granada 18016, Spain antonio.lopezescamez@genyo.es. · Department of Otolaryngology, Instituto de Investigación Biosanitaria ibs.GRANADA, Complejo Hospitalario Universidad de Granada (CHUGRA) Granada 18016, Spain. ·Hum Mol Genet · Pubmed #27329761.

ABSTRACT: Meniere's Disease (MD) is a complex disorder associated with an accumulation of endolymph in the membranous labyrinth in the inner ear. It is characterized by recurrent attacks of spontaneous vertigo associated with sensorineural hearing loss (SNHL) and tinnitus. The SNHL usually starts at low and medium frequencies with a variable progression to high frequencies. We identified a novel missense variant in the PRKCB gene in a Spanish family with MD segregating low-to-middle frequency SNHL. Confocal imaging showed strong PKCB II protein labelling in non-sensory cells, the tectal cells and inner border cells of the rat organ of Corti with a tonotopic expression gradient. The PKCB II signal was more pronounced in the apical turn of the cochlea when compared with the middle and basal turns. It was also much higher in cochlear tissue than in vestibular tissue. Taken together, our findings identify PRKCB gene as a novel candidate gene for familial MD and its expression gradient in supporting cells of the organ of Corti deserves attention, given the role of supporting cells in K