Genetic background of Meniere’s disease
DOI:
https://doi.org/10.20883/jms.2018.289Keywords:
Meniere’s disease, genetic background, gene identificationAbstract
Meniere’s disease (MD) as an inner ear disorder including such symptoms as recurrent vertigo attacks, tinnitus, fluctuating or progressive sensorineural hearing loss. Its relatively frequent familial incidence implicates a genetic background. An autosomal dominant inheritance was commonly observed with a few exceptions. It was established that Meniere’s disease is not a monogenic disorder. Instead a group of genes of genomic and mitochondrial genes was established as determinants of hearing loss. Another group of genes was associated with inner ear (vestibulum, labyrinth, endolymph) alterations followed by dizziness and tinnitus. Altogether, many studies suggest a multigenic interaction to predispose to develop Meniere’s disease.Downloads
References
Syed I, Aldren C. Meniere’s disease: an evidence based approach to assessment and management. Int J Clinic Practice. 2012 Febr;66(2):166–170.
Sajjadi H, Paparella MM. Meniere’s disease. Lancet. 2008 Aug;372(9636):406–414.
Pender DJ. The progressive nature of Meniere’s disease: Stress projections and lesion analysis. Otology Neurotol. 2018 Feb;39(2):221–226.
Nevoux J, Barbara M, Dorhhoffer J, Gibson W, Kitahara T, Darrouzet V. International consensus (ICON on treatment of Meniere’s disease. Eur Ann Otorhonolaryngol. Head Neck Dis. 2018 Feb;135(1S):S29–S32.
Bruderer SG, Bodmer D, Stohler NA, Jick SS, Meier CR. Population-based study on the epidemiology of Meniere’s disease. Audio Neurootol. 2017 Sept;22(2):74–82.
Teggi R, Zagato L, Delli Carpini S, Citterio L, Cassandro C, Albera R et al. Genetics of ion homeostasis in Meniere’s disease. Eur Arch Otorhinolaryngol. 2017 Feb;274 (2):757–763.
Arweiler-Harbeck D, Horsthemke B, Jahnke K, Hennies HC. Genetic aspects of familial Meniere’s disease. Otology Neurotol. 2011 June;32(4):695–700.
Frejo L, Giegling I, Teggi R, Lopes-Escamez JA, Rujescu S. Genetics of vestibular disorders: pathophysiological insights. J Neurol. 2016 Apr;263(Suppl 1):S45–S53.
Frykholm C, Larsen HC, Dahl N, Klar J, Rask-Andersen H, Friberg U. Familial Meniere’s disease in five generations. Otology Neurotol. 2006 Aug;27(5):681–686.
Requena T, Espinoza-Sanchez JM, Lopez-Escamez JA. Genetics of dizziness: cerebellar and vestibular disorders. Current Opin Neurol. 2014 Feb;27(1):98–104.
Fransen E, Verstreken M, Verhagen IIM, Wuyts FL, Huygen PLM, D’Haesse et al. High prevalence of symtoms of Meniere’s disease in three families with a mutation in the COCH gene. Human Molec Genet 1999 Aug;8(8):1425–29.
Hildebrand MS, Gandolfo L, Shearer AE, Webster JA, Jenen M, Kimberling WJ et al. A novel mutation in COCH – implications for genotype-phenotype correlations in DFNA9 hearing loss. Laryngoscope. 2010 Dec;120(12):2489–93. doi: 10.1002/lary.21159.
Gallant E, Francey L, Fetting H, Kaur M, Hakonarson H, Clark D et al. Novel COCH mutation in a family with autosomal domoinant late onset sensorineural heating impairment. Am J Otolaryngol Head Neck Surg. 2013 May;34(3)230–235.
Nair TS, Kommareddi TK, Gallano MM, Miller DM, Kakakraparthi BN, Telian SA et al. SLC44A2 single nucleotide polymorphisms, isoforms, and expression: Association with severity of Meniere’s disease? Genomics. 2016 Dec;108(5–6):201–208.
Rydzanicz M, Wróbel M, Pollak A, Gawęcki W, Brauze D, Kostrzewska-Poczekaj M et al. Mutation analysis of mitochondrial gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss. Bioch Bioph Res Commun. 2010 April;395(1):116–121.
Qian Y, Guan MX. Interaction of aminoglycosides with humn mitochondrial 12S rRNA carrying the deafness-associated mutation. Antimicrob Agents Chemother. 2009 Nov;53(11):4612–18.
Klar J, Frykhol C, Friberg U, Dahl N. A Meniere’s disease gene linked to chromosome 12p12.3. Am J Med Genet B Neuropsychiatr Genet. 2006 Jul;141B(5):463–7.
Hietikko E, Kotimäki J, Kental E, Klockars T, Sorri M, Männikö M. Finnish familial Meniere disease is not linked to chromosome 12p12.3, and anticipation cosegregation with migraine are not common findings. Genetics Med. 2011 May;13(5):415–20.
Hietikko E, Kotimäki J, Okuloff A, Sorri M, Männikö M. A replication study on proposed candidate genes in Méniere’s disease, and a review of the current status of genetic studies. Int J Audiol. 2012 Nov;51(11):841–5.
Li YJ, Jin ZG, Xu XR. Variants in the KCNE1 or KCNE3 gen.e and risk of Meniere’s disease. A meta-analysis. J Vestib Res 2016;25(5–6):211–8.
Gazquez I, Moreno A, Aran I, Soto-Varela A, Santos S, perez-Garrigues et al. MICA-Str A.4 is associated with slower hearing loss progression in patients with Méniere’s disease. Otology Otolaryng Neurotol. 2012 Feb;33(2):223–229.
Lopez-Escamez JA, Vilcher JR, Soto-Varela A, Santos-Perez S, Perez-Garrigues K, Aran I et al. HLA-DRB1*1101 allele may be associated with bilateral Meniere’s disease in southern European population. Otol Neurotol 2007 Oct;28(7):891–5.
Lopez-Escamez JA, Saenz-Lopez P, Acosta L, Moreno A, Gasquez I ,Perez-Garrigues H et al. Association of the functional polymorshism pf PTPN22 encoding a lymphoid protein phosphatase in bilateral Meniere’s disease. Laryngoscope. 2010 Jan;120(1):103–107.
Lopez-Escamez JA, Bibas T, Cima RFF, Van de Heyning P, Knipper M, Mazurek B et al. Genetics of Tinnitus: An emerging area for molecular diagnosis and drug development. Front Neurosci. 2016 Aug;10:art 377.
Requena T, Espinoza-Sanchez JM, Cabrera S, Trinidad G, Soto-Varela A, Santos-Perez S et al. Familial clustering and genetic heterogeneity in Meniere’s disease. Clin Genet. 2013 Mar;85(3):245–52.
Martin-Sierra C, Gallego-Martinez A, Requena T, Frejo L, Batuecas-Caletrio A, Lopez-Escamez JA. Variable expressitivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease. Eur J Human Genet. 2017 Feb;25(2):200–207.
Gawęcki W, Szyfter W, Łączkowska-Przybylska J, Szyfter-Harrris J. The long-term results of treatment of Menieres disease with intratympanic injections of gentamycin. Otolaryngol Pol. 2012 Jan-Feb;66(1):20–26.
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Copyright (c) 2018 Krzysztof Szyfter, Wojciech Gawęcki, Witold Szyfter
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