The genetics of Meniere's disease.
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ABSTRACT:
SUBMITTER: Chiarella G
PROVIDER: S-EPMC4293923 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
The genetics of Ménière's disease.
Chiarella Giuseppe G Petrolo C C Cassandro E E
The application of clinical genetics 20150108
Our understanding of the genetic basis of Ménière's disease (MD) is still limited. Although the familial clustering and the geographical and racial differences in incidence strongly suggest a certain role for genetic factors in the development of MD, no convincing evidence for an association with any gene exists, at present. In this review, starting from rational bases for a genetic approach to MD, we explored the numerous reports published in literature and summarize the recent advances in unde ...[more]
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| S-EPMC9969957 | biostudies-literature
Project description:(1) Background: Vestibular migraine (VM) and Menière's disease (MD) share multiple features in terms of clinical presentations and auditory-vestibular functions, and, therefore, more accurate diagnostic tools to distinguish between the two disorders are needed. (2) Methods: The study was of retrospective design and examined the data of 69 MD patients, 79 VM patients and 72 MD with migraine patients. Five vestibular autorotation test (VAT) parameters, i.e., horizontal gain/phase, vertical gain/phase and asymmetry were subjected to logistic regression. The receiver operating characteristic (ROC) curves were generated to determine the accuracy of the different parameters in the differential diagnosis of MD and VM. (3) Results: Our results showed that the horizontal gain of VAT significantly outperformed other parameters in distinguishing MD and VM. In addition, the sensitivity, specificity and accuracy of the horizontal gain were 95.7%, 50.6% and 71.6%, respectively, for the differentiation between VM and MD. In most MD patients, the horizontal gain decreased in the range of 3-4 Hz, while in most VM patients, horizontal gain increased in the range between 2-3 Hz. More MD with migraine patients had an increased horizontal gain when the frequency was less than 5.0 Hz and had a decreased horizontal gain when the frequency was greater than 5.0 Hz. (4) Conclusion: Our study suggested the VAT, especially the horizontal gain, as an indicator, may serve as a sensitive and objective indicator that helps distinguish between MD and VM. Moreover, VAT, due to its non-invasive and all-frequency nature, might be an important part of a test battery.
| S-EPMC9688433 | biostudies-literature
Project description:Ménière's disease (MD) represents a heterogeneous group of relatively rare disorders with three core symptoms: episodic vertigo, tinnitus, and sensorineural hearing loss involving 125 to 2,000 Hz frequencies. The majority of cases are considered sporadic, although familial aggregation has been recognized in European and Korean populations, and the search for familial MD genes has been elusive until the last few years. Detailed phenotyping and cluster analyses have found several clinical predictors for different subgroups of patients, which may indicate different mechanisms, including genetic and immune factors. The genes associated with familial MD are COCH, FAM136A, DTNA, PRKCB, SEMA3D, and DPT. At least two mechanisms have been involved in MD: (a) a pro-inflammatory immune response mediated by interleukin-1 beta (IL-1?), tumor necrosis factor alpha (TNF?), and IL-6, and (b) a nuclear factor-kappa B (NF-?B)-mediated inflammation in the carriers of the single-nucleotide variant rs4947296. It is conceivable that microbial antigens trigger inflammation with release of pro-inflammatory cytokines at different sites within the cochlea, such as the endolymphatic sac, the stria vascularis, or the spiral ligament, leading to fluid imbalance with an accumulation of endolymph. Computational integration of clinical and "omics" data eventually should transform the management of MD from "one pill fits all" to precise patient stratification and a personalized approach. This article lays out a proposal for an algorithm for the genetic diagnosis of MD. This approach will facilitate the identification of new molecular targets for individualized treatment, including immunosuppressant and gene therapy, in the near future.
| S-EPMC6097350 | biostudies-literature
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| S-EPMC9969956 | biostudies-literature
Project description:In the last 4?years the authors observed a trend that correcting vitamin D deficiency in newly diagnosed cases of Meniere's disease decreased the necessity of the ablative therapy with intratympanic gentamicin. According to their hypothesis, vitamin D supplementation may indeed have a beneficial effect in Meniere's disease if the symptoms are caused by a local postviral autoimmune reaction. Vitamin D has a strong immunomodulatory role, one of which is the regulation of the expression of pro-inflammatory mediators. The authors suggest further epidemiological studies to decide if there is a connection between vitamin D deficiency and Meniere's disease.
| S-EPMC6023719 | biostudies-literature
Project description:There have been no reports regarding nystagmus observed immediately after the end of an acute vertiginous attack in patients with Meniere's disease. The aim of this study was to demonstrate positional direction-changing nystagmus in patients with Meniere's disease, and to discuss the mechanism that underlies this nystagmus. Video-nystagmography was recorded in two patients with definite Meniere's disease, who showed positional direction-changing nystagmus during the period immediately after a vertigo attack. In one patient, video-nystagmographic recording was conducted 5 h after an episode of vertigo attack, and it showed very weak, persistent positional geotropic direction-changing nystagmus. In the other patient, video-nystagmographic recording was conducted 23 h after an episode of vertigo attack, and it showed very weak, persistent positional apogeotropic direction-changing nystagmus. Our patients exhibited very weak, persistent positional direction-changing nystagmus, which was geotropic in one and apogeotropic in the other. This type of positional nystagmus has been reported in other inner ear disorders and it cannot be clearly explained by typical benign paroxysmal positional vertigo. The change in chemical composition and/or electrolyte concentration of the inner ear fluid, although still unclear, may underlie the production of this characteristic nystagmus in these patients.
| S-EPMC7931113 | biostudies-literature
Project description:ObjectivesAllergic diseases and Meniere's disease found to have a possible link in observational study. However, the potential causal relationship between the two is unclear. Therefore, we aimed to explore the causal relationship between allergic diseases and Meniere's disease using a new data analysis technique called bidirectional Mendelian randomization study.MethodSummary-level statistics for Meniere's disease and three allergic diseases (asthma, allergic rhinitis, eczema/dermatitis) were obtained from large-scale genome-wide association studies. The inverse variance weighted method was used as the primary measure, supplemented by MR-Egger regression and the weighted median method. To ensure the reliability of the conclusions, Cochran's Q, MR-Egger intercept, MR-PRESSO test, leave-one-out test, and MR Steiger test were used.ResultsInverse-variance weighted method showed asthma (p = 0.008, OR = 3.908, 95% CI 1.424-10.724, adjust_p = 0.024), allergic rhinitis (p = 0.026, OR = 24.714, 95% CI 1.479-412.827, adjust_p = 0.026) and eczema/dermatitis (p = 0.019, OR = 3725.954, 95% CI 3.795 to 3,658,399.580, adjust_p = 0.029) all had a significant effect on Meniere's disease. Reverse Mendelian randomization studies have shown that Meniere's disease does not increase the risk of three allergic diseases. Sensitivity analysis showed no horizontal pleiotropy and heterogeneity for each trait.ConclusionOur Mendelian randomization analysis supports a positive causal relationship between three allergic diseases (asthma, allergic rhinitis, eczema/dermatitis) and Meniere's disease. This suggests that physicians should pay more attention to the Meniere's patient's allergy history and consider allergy avoidance as part of their treatment plan.Level of evidenceMendelian Randomized (MR) studies are second only to randomized controlled trials in terms of the level of evidence.
| S-EPMC11338938 | biostudies-literature
Project description:Changes in the weather influence symptom severity in Ménière's disease (MD).MD is an unpredictable condition that significantly impacts on quality of life. It is suggested that fluctuations in the weather, especially atmospheric pressure may influence the symptoms of MD. However, to date, limited research has investigated the impact of the weather on MD.In a longitudinal study, a mobile phone application collected data from 397 individuals (277 females and 120 males with an average age of 50 yr) from the UK reporting consultant-diagnosed MD. Daily symptoms (vertigo, aural fullness, tinnitus, hearing loss, and attack prevalence) and GPS locations were collected; these data were linked with Met Office weather data (including atmospheric pressure, humidity, temperature, visibility, and wind speed).Symptom severity and attack prevalence were reduced on days when atmospheric pressure was higher. When atmospheric pressure was below 1,013 hectopascals, the risk of an attack was 1.30 (95% confidence interval: 1.10, 1.54); when the humidity was above 90%, the risk of an attack was 1.26 (95% confidence interval 1.06, 1.49).This study provides the strongest evidence to date that changes in atmospheric pressure and humidity are associated with symptom exacerbation in MD. Improving our understanding of the role of weather and other environmental triggers in Ménière's may reduce the uncertainty associated with living with this condition, significantly contributing to improved quality of life.
| S-EPMC5224697 | biostudies-other
Project description:Meniere's disease is thought to be a disorder of the inner ear function, affected by genetic and environmental factors. Several recent studies have shown that air pollution could affect middle and inner ear diseases. The purpose of this study was to investigate the relationship between the Meniere's disease occurrence and air pollution status in Korea. This study used a time-stratified case-crossover design. Hospital visit data by Meniere's disease were collected from the Korea National Health Insurance Service-National Sample Cohort (NHIS-NSC) database. Daily air pollution data for sulfur dioxide (SO2), nitrogen dioxide (NO2), carbon monoxide (CO), ozone (O3), and particulate matter (PM10: ≤ 10 μm in diameter, and PM2.5: ≤ 2.5 μm in diameter) were collected from the National Ambient air quality Monitoring Information System (NAMIS) database. We used two-stage analysis to assess the association between degree of air pollution and the occurrence of Meniere's disease. In the first stage, region-specific analysis was conducted to estimate the odds ratios (ORs) of Meniere's disease risk associated with each air pollutant exposure by using conditional logistic regression for matched case-control sets in 16 regions. In the second stage, region-specific ORs from the first stage were combined and the pooled effect estimates were derived through fixed and random effect meta-analysis. Subgroup analysis was conducted for age, sex, seasonality, and urbanization of residence. In total, 29,646 (32.1% males and 67.9% females) Meniere's disease cases were identified from Korea NHIS-NSC database between 2008 and 2015. Overall, SO2, NO2, CO, and PM10 showed significant correlation with Meniere's disease risk at immediate lags, and weaker correlation at delayed lags, whereas O3 showed slightly negative correlation at the immediate lag (lag0) and PM2.5 did not show strong correlation (SO2: 1.04 [95% confidence interval: 1.01, 1.06]; NO2: 1.08 [1.06, 1.11]; CO: 1.04 [1.02, 1.06]; O3: 0.96 [0.93, 0.99]: statistically significant ORs at lag0 are listed). These positive and negative associations between Meniere's disease and each air pollutant were generally stronger in the age of 40-64, female, summer (June-August) season, and urban subgroups. Our results showed that hospital visits for Meniere's disease were associated with the measured concentrations of ambient air pollutants SO2, NO2, CO, and PM10. Further studies are required to confirm these associations and find their mechanisms.
| S-EPMC8222348 | biostudies-literature
Project description:BackgroundThe relationships of endolymphatic hydrops (EH) and perilymphatic enhancement (PE) with Ménière's disease (MD) remains unclear. This study aimed to describe the dynamic variation of EH and PE for MD patients over 2 hospitalizations by applying magnetic resonance imaging (MRI) to further clarify the relationships of EH and PE with MD.MethodsA total of 77 MD patients who underwent inner ear MRI after intravenous administration of gadolinium and pure-tone average (PTA) testing during a first and second hospitalization were included. The degree of EH and PE were evaluated via MRI, and the duration and frequency of vertigo attacks and PTA were collected and recorded. The PTA, EH, and PE for the 2 hospitalizations were compared, and the relationships of EH and cochlear PE with the MD stage were investigated.ResultsThere was no difference between the 2 hospitalizations for duration of vertigo attacks or frequency of vertigo attacks. However, there were significant differences in PTA (Z=-3.02, P=0.003). Additionally, the cochlear and vestibular EH in the asymptomatic ear at the second hospitalization was significantly worse than that of the first hospitalization (Z=-2.33 and -2.49, P=0.020 and 0.013, respectively), while there were no differences in EH and PE in the affected ear (all P>0.05). Moreover, the degree of cochlear and vestibular EH was correlated with MD stage (both P<0.01).ConclusionsAlthough EH and PE in the affected ear were unchanged over 2 hospitalizations, an underlying EH in the asymptomatic ear and hearing loss in the affected ear for MD patients developed longitudinally with the duration of disease, and EH varied with the natural course of MD whereas PE did not. Therefore, EH instead of PE is necessary but insufficient to cause the clinical symptoms of MD.
| S-EPMC9929744 | biostudies-literature