Contribution of Genetic Causes in Ear Vestibular Disorders

Document Type : Review Article

Authors

Department of Audiology, University of Rehabilitation Sciences and Social Health, Tehran, Iran

Abstract

Purpose:
Vestibular disorders such as deafness are associated with heterogeneous genetic patterns and multifactorial hereditary transmission methods. Improvement in the field of genetic sequencing has provided evidence of familial classification in vestibular disorders and is the beginning for revealing the genetic causes and new treatment options, especially in Meniere’s disease and disorders associated with hearing loss. In this review, our aim is to present the recent findings in the field of effective genes in vestibular disorders and investigating the possible treatment of these disorders.
Methods:
In this review article, the words “genes and vestibular diseases” and genetic therapy had searched in ‘google scholar” and “science direct” and "PubMed" databases in the years 2000 to 2023.
Results:
After searching in Google Scholar, Science Direct and PubMed databases, new and related articles were collected and studied, and about 32 articles were used in this study.
Conclusion:
The application of molecular and gene therapy for the restoration and return of hearing and vestibular disorder is significant. The discovery of possible new treatments for the creation of new hair cells are important advances in science that will facilitate further studies towards biological treatment of inner ear diseases.

Keywords

References

  1. Sayyid ZN, Kim GS, Cheng AG. Molecular therapy for genetic and degenerative vestibular disorders. Curr Opin Otolaryngol Head Neck Surg 2018; 26(5): 307-311.
  2. Chang W, Cole L, Cantos R, Wu DK. Molecular genetics of vestibular organ development. In The vestibular system New York, NY: Springer New York 2004; 8:  11-56.
  3. Elliott KL, Pavlínková G, Chizhikov VV, Yamoah EN, Fritzsch B. Development in the mammalian auditory system depends on transcription factors. Int J Mol Sci 2021; 22 (8): 4189.
  4. Tekin M, Hişmi BÖ, Fitoz S, Özdağ H, et al. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am J Hum Genet 2007; 80(2): 338-344.
  5. Ocak E, Duman D, Tekin M. Genetic causes of inner ear anomalies: A review from the Turkish study group for inner ear anomalies. Balkan Med J 2019; 36(4):206-211.
  6. Yazdani N, Khorsandi Ashtiani MT, Zarandy MM, Mohammadi SJ, et al. Association between MIF gene variation and M eniere's disease. Int J Immunogenet 2013; 40 (6):488-491.
  7. Eppsteiner RW, Smith RJ. Genetic disorders of the vestibular system. Curr Opin Otolaryngol Head Neck Surg 2011; 19(5): 397402.
  8. Chiarella G, Petrolo C, Cassandro E. The genetics of Meniere’s disease. Appl Clin Genet 2015; 8: 9-17.
  9. Gallego-Martinez A, Espinosa-Sanchez JM, Lopez-Escamez JA. Genetic contribution to vestibular diseases. J neurol 2018; 265(Suppl 1): 29-34.
  10. Doi K, Sato T, Kuramasu T, Hibino H, et al. Meniere’s disease is associated with single nucleotide polymorphisms in the human potassium channel genes, KCNE1 and KCNE3. ORL 2005; 67(5): 289-293.
  11. Campbell CA, Della Santina CC, Meyer NC, Smith NB, et al. Polymorphisms in KCNE1 or KCNE3 are not associated with Meniere disease in the Caucasian population. American journal of medical genetics Part A 2010; 152(1): 67-74.
  12. Candreia C, Schmuziger N, Gürtler N. Molecular analysis of aquaporin genes 1 to 4 in patients with Meniere’s disease. Cell Physiol Biochem 2010; 26(4-5): 787-792.
  13. Mhatre AN, Jero J, Chiappini I, Bolasco G, et al. Aquaporin-2 expression in the mammalian cochlea and investigation of its role in Meniere’s disease. Hearing research 2002; 170(1-2): 59-69.
  14. Maekawa C, Kitahara T, Kizawa K, Okazaki S, et al. Expression and translocation of aquaporin‐2 in the endolymphatic sac in patients with Ménière’s disease. Journal of neuroendocrinology 2010; 22(11): 1157-1164.
  15. Furuta T, Teranishi M, Uchida Y, Nishio N, et al. Association of interleukin‐1 gene polymorphisms with sudden sensorineural hearing loss and Ménière’s disease. International journal of immunogenetics 2011; 38(3): 249-254.
  16. Oh EH, Shin JH, Cho JW, Choi SY, et al. TRPM7 as a candidate gene for vestibular migraine. Front Neurol 2020; 11: 595042.
  17. Ryazanova LV, Rondon LJ, Zierler S, Hu Z, et al. TRPM7 is essential for Mg2+ homeostasis in mammals. Nat Commun 2010; 1(1): 109.
  18. Benemei S, Dussor G. TRP channels and migraine: recent developments and new therapeutic opportunities. Pharmaceuticals 2019; 12(2): 54.
  19. Xu Y, Zhang Y, Lopez IA, Hilbers J, et al. Identification of a genetic variant underlying familial cases of recurrent benign paroxysmal positional vertigo. PLoS One 2021; 16(5): e0251386.
  20. Deng M, Liu C, Jiang W, Wang F, et al. A novel genetic variant associated with benign paroxysmal positional vertigo within the LOXL1. Mol Genet Genomic Med 2020; 8(10): e1469.
  21. Sheikhzadeh M, Lotfi Y, Mousavi A, Heidari B. The effect of serum vitamin D normalization in preventing recurrences of benign paroxysmal positional vertigo: A case-control study. Caspian J Intern Med 2016; 7(3): 173-177.
  22. Sheikhzadeh M, Monadi M, Lotfi YO, Moosavi AB, et al. Studying the effect of vitamin d on the intensity of torsional nystagmus in Benign paroxysmal positional vertigo (BPPV) in Rohani hospital of Babol. Tehran Univ Med J 2021; 78(11):748-754. [Persian]
  23. Lotfi YO, Talebi H, Mehrkian, S, Malayeri S. Hereditary diseases in hearing system. Uswr 2011. Chapter 6;  79-135.
  24. Kim MA, Kim SH, Ryu N, Ma JH, et al. Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing. Theranostics 2019; 9(24):7184-7199.
  25. Roesch S, Rasp G, Sarikas A, Dossena S. Genetic determinants of non-syndromic enlarged vestibular aqueduct: a review. Audiol Res 2021; 11(3):423-442.
  26. Forli F, Lazzerini F, Auletta G, Bruschini L, Berrettini S. Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features. Eur Arch Otorhinolaryngol 2021; 278(1):2305-2312.
  27. Wen Z, Zhu H, Li Z, Zhang S, et al. A knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation. Biochem Biophys Res Commun 2019; 515(2): 359-365.
  28. Hildebrand MS, Tack D, DeLuca A, Hur IA, et al. Mutation in the COCH gene is associated with superior semicircular canal dehiscence. Am J Med Genet A 2009; 149(2): 280-285.
  29. Nist-Lund CA, Pan B, Patterson A, Asai Y, et al. Improved TMC1 gene therapy restores hearing and balance in mice with genetic inner ear disorders. Nat Commun 2019; 10(1): 734.
  30. Wu X, Zhang L, Li Y, Zhang W, et al. Gene therapy via canalostomy approach preserves auditory and vestibular functions in a mouse model of Jervell and Lange-Nielsen syndrome type 2. Nat Commun 2021; 12(1): 697.
  31. Lahlou G, Calvet C, Giorgi M, Lecomte MJ, Safieddine S. Towards the clinical application of gene therapy for genetic inner ear diseases. J Clin Med 2023; 12(3): 1046.
  32. Sayyid ZN, Wang T, Chen L, Jones SM, Cheng AG. Atoh1 directs regeneration and functional recovery of the mature mouse vestibular system. Cell Rep 2019; 28(2): 312-324.
  33. Lopez-Escamez JA, Cheng AG, Grill E, Liu TC. Epidemiology and Genetics of Vestibular Disorders. Front Neurol 2021; 12: 743379.
  34. Hu CJ, Lu YC, Yang TH, Chan YH, et al. Toward the pathogenicity of the SLC26A4 p. C565Y variant using a genetically driven mouse model. Int J Mol Sci 2021; 22(6): 2789.
  35. Hastings ML, Brigande JV. Fetal gene therapy and pharmacotherapy to treat congenital hearing loss and vestibular dysfunction. Hear Res 2020;394: 107931.
Journal of Paramedical Sciences & Rehabilitation
Volume 13, Issue 4
January 2025
Pages 85-97

Files

Share

How to cite

Statistics