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Published on: February 21, 2018
Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease
Alba Escalera-Balsera1, Pablo Roman-Naranjo1, Jose Antonio Lopez-Escamez1,2,3
1Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica, 18016 Granada, Spain.
Abstract:
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.
Insights
Familial Meniere Disease (FMD) is a rare inner ear condition. A systematic review identified 11 candidate genes, with OTOG showing potential in FMD pathogenesis and inheritance patterns.
Area of Science:
- Genetics
- Otolaryngology
- Molecular Biology
Background:
- Familial Meniere Disease (FMD) is an inherited inner ear disorder.
- Key symptoms include vertigo, hearing loss, tinnitus, and aural fullness.
Purpose of the Study:
- To systematically review sequencing studies identifying rare variants in FMD.
- To find evidence supporting candidate genes for Meniere Disease (MD).
Main Methods:
- Systematic literature review and quantitative synthesis of eight selected studies.
- Analysis of 20 single nucleotide variants (SNVs) in 11 genes.
- Evaluation of SNV pathogenicity, allelic frequency, gene expression, and inheritance patterns.
Main Results:
- Eleven genes (e.g., FAM136A, DTNA, PRKCB, COCH, DPT, SEMA3D, STRC, HMX2, TMEM55B, OTOG, LSAMP) were associated with FMD.
- The OTOG gene was identified in multiple families.
- SNVs were analyzed for pathogenicity and compared with reference datasets.
- Gene expression data helped classify genes in neural or inner ear tissues.
Conclusions:
- The study identified potential candidate genes for FMD, including OTOG.
- Analysis of inheritance patterns (autosomal dominant/recessive) provides insights into FMD pathogenesis.
- Further research into these genes may elucidate MD mechanisms.
