Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042571 (vertigo)
 7,148 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Meniere's disease (MD) is a complex disorder of the inner ear that causes vertigo attacks, fluctuating sensorineural hearing loss (SNHL), tinnitus and aural fullness. MD has been attributed to an accumulation of endolymph in the cochlear duct. The diagnosis of MD is based on the phenomenological association of clinical symptoms and the demonstration of SNHL during the vertigo attacks. Several evidences support a genetic contribution to MD including differences in the prevalence according to the ethnic background and familial aggregation in European and Asian populations in multiplex families with autosomal dominant inheritance. The genetic underpinnings of MD may include some rare monogenic forms in isolated families and a polygenic contribution in most familial and sporadic cases. So, familial MD has been reported in 6-8% of sporadic cases and several genes have been described in single Familial MD including FAM136A, DTNA, PRKCB, SEMA3D and DPT, suggesting genetic heterogeneity. Multiplex rare missense variants in OTOG gene have been reported in 33% of familial MD, suggesting multiallelic inheritance. Moreover, the genetic landscape of sporadic MD is more complex and it involves multiplex rare variants in several SNHL genes such as GJB2, USH1G, SLC26A4, ESRRB, and CLDN14 and axonal-guidance signalling genes such as NTN4 and NOX3. This review summarizes evidence to support a genetic contribution in MD and the start of deciphering the genetic architecture to design and develop a molecular map of MD.
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PMID:Genetic architecture of Meniere's disease. 3187 21

Familial Meniere Disease (FMD) is a rare inner ear disorder characterized by episodic vertigo associated with sensorineural hearing loss, tinnitus and/or aural fullness. We conducted a systematic review to find sequencing studies segregating rare variants in FMD to obtain evidence to support candidate genes for MD. After evaluating the quality of the retrieved records, eight studies were selected to carry out a quantitative synthesis. These articles described 20 single nucleotide variants (SNVs) in 11 genes (FAM136A, DTNA, PRKCB, COCH, DPT, SEMA3D, STRC, HMX2, TMEM55B, OTOG and LSAMP), most of them in singular families-the exception being the OTOG gene. Furthermore, we analyzed the pathogenicity of each SNV and compared its allelic frequency with reference datasets to evaluate its role in the pathogenesis of FMD. By retrieving gene expression data in these genes from different databases, we could classify them according to their gene expression in neural or inner ear tissues. Finally, we evaluated the pattern of inheritance to conclude which genes show an autosomal dominant (AD) or autosomal recessive (AR) inheritance in FMD.
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PMID:Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease. 3326 Sep 21