@misc{10481/81704,
year = {2023},
month = {4},
url = {https://hdl.handle.net/10481/81704},
abstract = {Meniere 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.},
organization = {CAUL and
its Member Institutions},
organization = {Andalusian University, Research and Innovation Department
(Grant# PREDOC2021/00343)},
organization = {Instituto de Salud Carlos
III (Grant# PI20-1126)},
organization = {CIBERER (Grant# PIT21_GCV21),},
organization = {Andalusian
University, Research and Innovation Department (PY20-00303,
EPIMEN),},
organization = {Andalusian Health Department (Grant# PI027-2020), Asociacion
Sindrome de Meniere España (ASMES},
organization = {Meniere’s Society, UK.},
publisher = {Springer Nature},
keywords = {Meniere’s disease},
keywords = {Hearing loss},
keywords = {Exome sequencing},
keywords = {Genetic},
keywords = {Genomics},
keywords = {Tectorial membrane},
keywords = {Otolithic membrane},
keywords = {OTOG gene},
keywords = {MYO7A gene},
keywords = {TECTA gene},
title = {Types of Inheritance and Genes Associated with Familial Meniere Disease},
doi = {10.1007/s10162-023-00896-0},
author = {Parra Pérez, Alberto M. and López Escámez, José Antonio},
}