Genetic aspects and clinical characteristics of familial meniere's disease in a <scp>S</scp>outh <scp>K</scp>orean population

Lee, Jeon Mi; Kim, Mi Joo; Jung, Jinsei; Kim, Hyun Ji; Seo, Young Joon; Kim, Sung Huhn

doi:10.1002/lary.25207

Cited by 32 publications

(30 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our results are not similar to these results from Caucasian populations (Table ); the prevalence of familial MD and vestibular migraine are not higher in BMD than in patients with UMD. Recent studies with large European and Asian populations reported that the frequency of BMD was not higher in patients with familial MD than in those with sporadic MD . This observation suggests that several genes can affect the bilaterality of MD, but they may not be a main cause; de novo mutation/autoimmune pathologies can also elicit bilateral involvement.…”

Section: Discussionmentioning

confidence: 97%

See 1 more Smart Citation

Clinical Characteristics of Bilateral Meniere's Disease in a Single Asian Ethnic Group

et al. 2018

Self Cite

View full text Add to dashboard Cite

Objectives/Hypothesis To identify the clinical characteristics of patients with bilateral Meniere's disease (MD) in an Asian population. Study Design Cross‐sectional retrospective study. Methods We compared the clinical features of bilateral MD (BMD) and unilateral MD (UMD) in 320 Asian patients with single ethnicity. Demographic variables; age of onset; inner ear function; the coexistence of related disorders such as vestibular migraine, delayed MD, systemic autoimmune diseases, and familial MD; and prognoses were analyzed and compared. Results The overall prevalence of BMD was 5.6%. The mean age of disease onset was 40.3 ± 14.8 and 47.0 ± 14.1 years for patients with BMD and UMD, respectively (P = .07). Demographic variables were not significantly different between patients with BMD and UMD (P > .05). Inner ear function, evaluated by hearing thresholds, caloric tests, and cervical vestibular evoked myogenic potentials, was significantly more deteriorated in the first involved ear of patients with BMD than in the second involved ear or the affected side of patients with UMD (P < .05). Among the comorbid conditions, only the prevalence of delayed MD was significantly higher in patients with BMD than in patients with UMD. Systemic autoimmune disease was found in only three patients with UMD. There was no significant prognostic difference between patients with UMD and BMD (P > .05). Conclusions A low prevalence of BMD, a higher frequency of delayed MD in BMD patients, and a low frequency of systemic autoimmune diseases in both UMD and BMD patients are significant findings in an Asian population. Level of Evidence 4 Laryngoscope, 129:1191–1196, 2019

show abstract

Section: Discussionmentioning

confidence: 97%

“…In addition, most studies concerning BMD have been based on the data from Caucasian populations, and reports from other ethnicities are lacking. Studies of BMD in a wider variety of countries and different ethnic populations are important because MD shows ethnic diversities in epidemiologic and genetic features …”

Section: Introductionmentioning

confidence: 99%

Clinical Characteristics of Bilateral Meniere's Disease in a Single Asian Ethnic Group

et al. 2018

Self Cite

View full text Add to dashboard Cite

show abstract

“…A sex difference has been reported in MD, with the ratio of women to men 1Á3 : 1 in Japan and 1Á89 : 1 in the United States [3,4]. Most cases were shown with an autosomal-dominant inheritance pattern [9,10]. Notably, it was estimated that definite familial MD might be found in 6Á3% of South Koreans and 8Á4% in Spain.…”

Section: Introductionmentioning

confidence: 99%

RNA-sequencing study of peripheral blood mononuclear cells in sporadic Ménière's disease patients: possible contribution of immunologic dysfunction to the development of this disorder

Sun

Zhang

Sun

et al. 2017

Clinical and Experimental Immunology

View full text Add to dashboard Cite

To date, the pathogenesis of Ménière's disease (MD) remains unclear. This study aims to investigate the possible relationship between potential immune system-related genes and sporadic MD. The whole RNA-sequencing (RNA-seq) technology was used to analyse the transcriptome of peripheral blood mononuclear cells of three MD patients and three control individuals. Of 366 differentially expressed genes (DEGs), 154 genes were up-regulated and 212 genes were down-regulated (|log fold change| > 1 and P < 0·05). Gene ontology (GO) enrichment analysis illustrated that immune relevant factors played a key role in the pathogenesis of MD. Of 366 DEGs, we focused upon analysing the possible immune-related genes, among which the significantly up-regulated genes [glutathione S-transferase mu 1 (GSTM1), transmembrane protein 176 (TMEM176)B, TMEM176A] and down-regulated genes [solute carrier family 4 member (SLC4A)10 and SLC4A1] especially drew our attention. The mRNA expression levels of GSTM1, TMEM176B, TMEM176A, SLC4A1 and SLC4A10 were analysed by quantitative reverse transcription-polymerase chain reaction (qRT-PCR). The serum concentration of GSTM1, TMEM176B and SLC4A10 proteins were measured by enzyme-linked immunosorbent assay (ELISA). Considering the results of qRT-PCR and ELISA, it was noteworthy that GSTM1 exhibited the highest fold change between two groups, which was consistent with the deep sequencing results by RNA-seq. In conclusion, our study first offers a new perspective in MD development on the basis of RNA expression patterns, suggesting that immune factors might be involved in the MD pathogenesis. Remarkably, GSTM1 might be a possible candidate gene for the diagnostic biomarker of MD and provides the basis for further biological and functional investigations.

show abstract

“…15,17 Some of the described families presented co-segregation with migraine and anticipation, 12,25,26 but the two Spanish families that we report here do not show these features. Our study shows that AD-FMD has an incomplete penetrance with variable expressivity and it confirms a clinical heterogeneity in FMD.…”

Section: Discussionmentioning

confidence: 54%

“…13 Most of the cases of MD are considered sporadic, but familial clustering has been reported. 12,[14][15][16] Familial MD (FMD) is observed in 8-10% of sporadic cases, 17 and FAM136A and DTNA genes have been found in a single family with incomplete penetrance. 18 Although most cases present an autosomal dominant (AD) pattern of inheritance, different patterns have been observed, 14,15 suggesting a genetic heterogeneity in FMD.…”

Section: Introductionmentioning

confidence: 99%

Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease

et al. 2016

View full text Add to dashboard Cite

Autosomal dominant (AD) familial Meniere's disease (FMD) is a rare disorder involving the inner ear defined by sensorineural hearing loss, tinnitus and episodic vertigo. Here, we have identified two novel and rare heterozygous variants in the SEMA3D and DPT genes segregating with the complete phenotype that have variable expressivity in two pedigrees with AD-FMD. A detailed characterization of the phenotype within each family illustrates the clinical heterogeneity in the onset and progression of the disease. We also showed the expression of both genes in the human cochlea and performed in silico analyses of these variants. Three-dimensional protein modelling showed changes in the structure of the protein indicating potential physical interactions. These results confirm a genetic heterogeneity in FMD with incomplete penetrance and variable expressivity.

show abstract

Genetic aspects and clinical characteristics of familial meniere's disease in a South Korean population

Abstract: 4.

Cited by 32 publications

References 17 publications

Clinical Characteristics of Bilateral Meniere's Disease in a Single Asian Ethnic Group

Clinical Characteristics of Bilateral Meniere's Disease in a Single Asian Ethnic Group

RNA-sequencing study of peripheral blood mononuclear cells in sporadic Ménière's disease patients: possible contribution of immunologic dysfunction to the development of this disorder

Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease

Contact Info

Product

Resources

About