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dc.contributor.authorParra Pérez, Alberto M.
dc.contributor.authorLópez Escámez, José Antonio 
dc.date.accessioned2023-05-22T09:27:28Z
dc.date.available2023-05-22T09:27:28Z
dc.date.issued2023-04-06
dc.identifier.citationParra-Perez, A.M., Lopez-Escamez, J.A. Types of Inheritance and Genes Associated with Familial Meniere Disease. JARO (2023). [https://doi.org/10.1007/s10162-023-00896-0]es_ES
dc.identifier.urihttps://hdl.handle.net/10481/81704
dc.description.abstractMeniere disease (MD) is a rare disorder of the inner ear defined by sensorineural hearing loss (SNHL) associated with episodes of vertigo and tinnitus. The phenotype is variable, and it may be associated with other comorbidities such as migraine, respiratory allergies, and several autoimmune disorders. The condition has a significant heritability according to epidemiological and familial segregation studies. Familial MD is found in 10% of cases, the most frequently found genes being OTOG, MYO7A, and TECTA , previously associated with autosomal dominant and recessive non-syndromic SNHL. These findings suggest a new hypothesis where proteins involved in the extracellular structures in the apical surface of sensory epithelia (otolithic and tectorial membranes) and proteins in the stereocilia links would be key elements in the pathophysiology of MD. The ionic homeostasis of the otolithic and tectorial membranes could be critical to suppress the innate motility of individual hair cell bundles. Initially, focal detachment of these extracellular membranes may cause random depolarization of hair cells and will explain changes in tinnitus loudness or trigger vertigo attacks in early stages of MD. With the progression of the disease, a larger detachment will lead to an otolithic membrane herniation into the horizontal semicircular canal with dissociation in caloric and head impulse responses. Familial MD shows different types of inheritance, including autosomal dominant and compound recessive patterns and implementation of genetic testing will improve our understanding of the genetic structure of MD.es_ES
dc.description.sponsorshipCAUL and its Member Institutionses_ES
dc.description.sponsorshipAndalusian University, Research and Innovation Department (Grant# PREDOC2021/00343)es_ES
dc.description.sponsorshipInstituto de Salud Carlos III (Grant# PI20-1126)es_ES
dc.description.sponsorshipCIBERER (Grant# PIT21_GCV21),es_ES
dc.description.sponsorshipAndalusian University, Research and Innovation Department (PY20-00303, EPIMEN),es_ES
dc.description.sponsorshipAndalusian Health Department (Grant# PI027-2020), Asociacion Sindrome de Meniere España (ASMESes_ES
dc.description.sponsorshipMeniere’s Society, UK.es_ES
dc.language.isoenges_ES
dc.publisherSpringer Naturees_ES
dc.rightsAtribución 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectMeniere’s diseasees_ES
dc.subjectHearing losses_ES
dc.subjectExome sequencinges_ES
dc.subjectGenetic es_ES
dc.subjectGenomicses_ES
dc.subjectTectorial membranees_ES
dc.subjectOtolithic membranees_ES
dc.subjectOTOG genees_ES
dc.subjectMYO7A genees_ES
dc.subjectTECTA genees_ES
dc.titleTypes of Inheritance and Genes Associated with Familial Meniere Diseasees_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses_ES
dc.identifier.doi10.1007/s10162-023-00896-0
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersiones_ES


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