Genetic advances in Meniere Disease

Abstract

Meniere Disease (MD) is an idiopathic inner ear disease with complex etiology and pathogenesis, which is still unclear. With the development in gene analysis technology, the genetic research of MD has attracted extensive attention, resulting in a large number of studies on the research of the relationship between human genes and MD. This paper aims to review the studies on this topic in recent years. The studies mainly focused on the genetics of familial MD and the correlation between MD and potentially related functional genes. The results of these studies have demonstrated the complexity and diversity of the pathogenesis of MD with both genetic and epigenetic alterations, suggesting that MD might be related to inflammation, immunity, aqua and ion balance in the lymphatic fluid, virus infection, metabolism, and abnormal function of nerve conduction. The finding of rare mutations in TECTA, MYO7A and OTOG genes and other genes such as CDH23, PCDH15 and ADGRV1 in the same families suggest that the integrity of the stereocilia and their interaction with the tectorial and otolithic membranes could be involved in the pathophysiology of familial MD.

Características clínicas y conducta de la Enfermedad de Ménière.

“…7-N° 2, 2023, pp. 1622-1637 Journal Scientific MQRInvestigar 1628 DM familiar que influyen en la hipoacusia neurosensorial de baja a media frecuencia (Dai et al, 2022). Se ha demostrado que algunos complejos mayores de histocompatibilidad (MHC) y HLA estaban relacionados con la enfermedad de Meniere, lo que apoya que el mecanismo autoinmune podría estar implicado en la patogénesis.…”

“…Se ha demostrado que algunos complejos mayores de histocompatibilidad (MHC) y HLA estaban relacionados con la enfermedad de Meniere, lo que apoya que el mecanismo autoinmune podría estar implicado en la patogénesis. Existe también la teoría de que el virus del herpes simple estaría involucrado como causante, probablemente por la citoquina del huésped C1 (HCFC1) interactúa con las proteínas del virus del herpes simple y participa en la replicación viral en las células nerviosas (Dai et al, 2022). Vrabec et al descubrieron que la frecuencia del alelo primario de los SNP de HCFC1 aumentaba en los pacientes con enfermedad de Ménière (Dai et al, 2022).…”

The neurophysiological approach to misophonia: Theory and treatment

“…The situation is further complicated by a push toward determining presumed etiology before establishing a definition. To create a definition of a disorder, it is not necessary to know its etiology, and therefore, the term “idiopathic” is used in many cases (e.g., idiopathic intracranial hypertension, idiopathic ventricular tachycardia, idiopathic sudden sensorineural hearing loss, and Ménière's disease) (Altemose and Buxton, 1999 ; Ciccone et al, 2018 ; Rehder, 2020 ; Desiato et al, 2021 ; Dai et al, 2022 ; de Cates and Winters, 2022 ; Marchioni et al, 2022 ).…”

Cytokine profiling and transcriptomics in mononuclear cells define immune variants in Meniere Disease

“…Meniere Disease (MD, MIM 156,000) is a rare chronic inner ear syndrome, characterized by sensorineural hearing loss (SNHL), vertigo attacks, aural fullness, and tinnitus [ 1 ]. The condition is multifactorial, including genetic and epigenetic factors [ 2 – 4 ]. MD is a highly heterogeneous disease, hence various classifications of this syndrome have been reported according to clinical history [ 5 – 7 ], radiological findings [ 8 ], and molecular subtypes [ 9 ].…”