Application of gene therapy in auditory system diseases

Chunjiang Wei; Weijia Kong; Zuhong He

doi:10.37175/stemedicine.v1i1.17

Chunjiang Wei Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, China
Weijia Kong Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, China
Zuhong He Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC 29425, USA; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, China

DOI: https://doi.org/10.37175/stemedicine.v1i1.17

Keywords: Gene therapy, Hearing, Transfection vector, Auditory diseases, Inner ear

Abstract

How to prevent and treat auditory related diseases through genetic intervention is a hotspot in the field of hearing research in recent years. With the development of molecular biology, molecular genetics, genetic engineering, etc., especially, gene regulation has made a major breakthrough in the research of inner ear hair cell regeneration in recent years, which may provide us with a novel and efficient way to treat auditory related diseases. This review includes the latest research on gene therapy in hereditary deafness, drug deafness, aging-related hearing loss, and noise-related hearing loss.

Downloads

Download data is not yet available.

References

Guo W, Yi H, Ren L, Chen L, Zhao L, Sun W, et al. The morphology and electrophysiology of the cochlea of the miniature pig. Anat Rec (Hoboken). 2015;298(3):494-500.

Guo W, Yi H, Yan Z, Ren L, Chen L, Zhao LD, et al. The morphological and functional development of the stria vascularis in miniature pigs. Reprod Fertil Dev. 2017;29(3):585-93.

Ekdale EG. Comparative Anatomy of the Bony Labyrinth (Inner Ear) of Placental Mammals. PLoS ONE. 2013;8(6):e66624.

Dai C, Lehar M, Sun DQ, Rvt LS, Carey JP, MacLachlan T, et al. Rhesus cochlear and vestibular functions are preserved after inner ear injection of saline volume sufficient for gene therapy delivery. J Assoc. Res Otolaryngol. 2017;18(4):601-17.

György B, Meijer EJ, Ivanchenko MV, Tenneson K, Emond F, Hanlon KS, et al. Gene Transfer with AAV9-PHP.B rescues hearing in a mouse model of usher syndrome 3A and transduces hair cells in a non-human primate. Mol Ther Methods Clin Dev. 2019;13:1-13.

DeSmidt AA, Zou B, Grati M, Yan D, Mittal R, Yao Q, et al. Zebrafish model for nonsyndromic X-linked sensorineural deafness, DFNX1. Anat Rec (Hoboken). 2019.

Zou B, Desmidt AA, Mittal R, Yan D, Richmond M, Tekin M, et al. The generation of zebrafish mariner model using the CRISPR/Cas9 system. Anat Rec (Hoboken). 2019.

Suzuki J, Hashimoto K, Xiao R, Vandenberghe LH, Liberman MC. Cochlear gene therapy with ancestral AAV in adult mice: complete transduction of inner hair cells without cochlear dysfunction. Sci Rep. 2017;7:45524.

Gu X, Chai R, Guo L, Dong B, Li W, Shu Y, et al. Transduction of adeno-associated virus vectors targeting hair cells and supporting cells in the neonatal mouse cochlea. Front Cell Neurosci. 2019;13:8.

Tan F, Chu C, Qi J, Li W, You D, Li K, et al. AAV-ie enables safe and efficient gene transfer to inner ear cells. Nat Commun. 2019;10(1):3733.

Giannelli SG, Luoni M, Castoldi V, Massimino L, Cabassi T, Angeloni D, et al. Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery. Hum Mol Genet. 2018;27(5):761-79.

Driver EC, Kelley MW. Transfection of mouse cochlear explants by electroporation. Curr Protoc Neurosci. 2010;Chapter 4:Unit 4.34.1-10.

Wang L, Jiang H, Brigande JV. Gene transfer to the developing mouse inner ear by in vivo electroporation. J Vis Exp. 2012(64).

Hilgert N, Smith RJ, Van Camp G. Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med. 2009;9(5):546-64.

Carpena NT, Lee MY. Genetic Hearing Loss and Gene Therapy. Genomics Inform. 2018;16(4):e20.

Iizuka T, Kamiya K, Gotoh S, Sugitani Y, Suzuki M, Noda T, et al. Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness. Hum Mol Genet. 2015;24(13):3651-61.

Akil O, Seal RP, Burke K, Wang C, Alemi A, During M, et al. Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy. Neuron. 2012;75(2):283-93.

Fukui H, Wong HT, Beyer LA, Case BG, Swiderski DL, Di Polo A, et al. BDNF gene therapy induces auditory nerve survival and fiber sprouting in deaf Pou4f3 mutant mice. Sci Rep. 2012;2:838.

Nist-Lund CA, Pan B, Patterson A, Asai Y, Chen T, Zhou W, et al. Improved TMC1 gene therapy restores hearing and balance in mice with genetic inner ear disorders. Nat Commun. 2019;10(1):236.

Kesser BW, Hashisaki GT, Holt JR. Gene transfer in human vestibular epithelia and the prospects for inner ear gene therapy. Laryngoscope. 2008;118(5):821-31.

Pan B, Askew C, Galvin A, Heman-Ackah S, Asai Y, Indzhykulian AA, et al. Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. Nat Biotechnol. 2017;35(3):264-72.

Kim MA, Cho HJ, Bae SH, Lee B, Oh SK, Kwon TJ, et al. Methionine sulfoxide reductase B3-targeted in utero gene therapy rescues hearing function in a mouse model of congenital sensorineural hearing loss. Antioxid Redox Signal. 2016;24(11):590-602.

Dunbar LA, Patni P, Aguilar C, Mburu P, Corns L, Wells HR, et al. Clarin-2 is essential for hearing by maintaining stereocilia integrity and function. EMBO Mol Med. 2019;11(9):e10288.

Morgan A, Koboldt DC, Barrie ES, Crist ER, García García G, Mezzavilla M, et al. Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss. Human mutation. 2019.

Sineni CJ, Yildirim-Baylan M, Guo S, Camarena V, Wang G, Tokgoz-Yilmaz S, et al. A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss. Hum Mutat. 2019;138(10):1071-5.

Yoshimura H, Shibata SB, Ranum PT, Moteki H, Smith RJH. Targeted allele suppression prevents progressive hearing loss in the mature murine model of human TMC1 deafness. Molecular therapy : the journal of the American Society of Gene Therapy. 2019;27(3):681-90.

Kawamoto K, Sha SH, Minoda R, Izumikawa M, Kuriyama H, Schacht J, et al. Antioxidant gene therapy can protect hearing and hair cells from ototoxicity. Mol Ther. 2004;9(2):173-81.

Xu H, Robinson GW, Huang J, Lim JY, Zhang H, Bass JK, et al. Common variants in ACYP2 influence susceptibility to cisplatin-induced hearing loss. Nat Genet. 2015;47(3):263-6.

Wheeler HE, Gamazon ER, Frisina RD, Perez-Cervantes C, El Charif O, Mapes B, et al. Variants in and other mendelian deafness genes are associated with cisplatin-associated ototoxicity. Clin Cancer Res. 2017;23(13):3325-33.

Brown AL, Lupo PJ, Okcu MF, Lau CC, Rednam S, Scheurer ME. SOD2 genetic variant associated with treatment-related ototoxicity in cisplatin-treated pediatric medulloblastoma. Cancer Med. 2015;4(11):1679-86.

Drögemöller BI, Monzon JG, Bhavsar AP, Borrie AE, Brooks B, Wright GEB, et al. Association between SLC16A5 genetic variation and cisplatin-induced ototoxic effects in adult patients with testicular cancer. JAMA Oncol. 2017;3(11):1558-62.

Cooper LB, Chan DK, Roediger FC, Shaffer BR, Fraser JF, Musatov S, et al. AAV-mediated delivery of the caspase inhibitor XIAP protects against cisplatin ototoxicity. Otol Neurotol. 2006;27(4):484-90.

Jie H, Tao S, Liu L, Xia L, Charko A, Yu Z, et al. Cochlear protection against cisplatin by viral transfection of X-linked inhibitor of apoptosis protein across round window membrane. Gene Ther. 2015;22(7):546-52.

Chan DK, Lieberman DM, Musatov S, Goldfein JA, Selesnick SH, Kaplitt MG. Protection against cisplatin-induced ototoxicity by adeno-associated virus-mediated delivery of the X-linked inhibitor of apoptosis protein is not dependent on caspase inhibition. Otol Neurotol. 2007;28(3):417-25.

Fetoni AR, Zorzi V, Paciello F, Ziraldo G, Peres C, Raspa M, et al. Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway. Redox Biol. 2018;19:301-17.

Newman DL, Fisher LM, Ohmen J, Parody R, Fong CT, Frisina ST, et al. GRM7 variants associated with age-related hearing loss based on auditory perception. Hear Res. 2012;294(1-2):125-32.

Wang T, Yang J, Ji X, Chu M, Zhang R, Dai J, et al. Pathway analysis for a genome-wide association study of pneumoconiosis. Toxicol Lett. 2015;232(1):284-92.

Ueda N, Oshima T, Ikeda K, Abe K, Aoki M, Takasaka T. Mitochondrial DNA deletion is a predisposing cause for sensorineural hearing loss. Laryngoscope. 1998;108(4 Pt 1):580-4.

Liu Y, Chu H, Chen J, Zhou L, Chen Q, Yu Y, et al. Age-related change in the expression of NKCC1 in the cochlear lateral wall of C57BL/6J mice. Acta Otolaryngol. 2014;134(10):1047-51.

Wiwatpanit T, Remis NN, Ahmad A, Zhou Y, Clancy JC, Cheatham MA, et al. Codeficiency of lysosomal mucolipins 3 and 1 in cochlear hair cells diminishes outer hair cell longevity and accelerates age-related hearing loss. J Neurosci. 2018;38(13):3177-89.

Kytövuori L, Hannula S, Mäki-Torkko E, Sorri M, Majamaa K. A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment. Hear Res. 2017;355:97-101.

Espino Guarch M, Font-Llitjós M, Murillo-Cuesta S, Errasti-Murugarren E, Celaya AM, Girotto G, et al. Mutations inL-type amino acid transporter-2 support as a novel gene involved in age-related hearing loss. ELife. 2018;7.

Lin X, Li G, Zhang Y, Zhao J, Lu J, Gao Y, et al. Hearing consequences in Gjb2 knock-in mice: implications for human p.V37I mutation. Aging. 2019;11(18):7416-41.

White K, Kim MJ, Han C, Park HJ, Ding D, Boyd K, et al. Loss of IDH2 accelerates age-related hearing loss in male mice. Sci Rep. 2018;8(1):5039.

Salehi P, Ge MX, Gundimeda U, Michelle Baum L, Lael Cantu H, Lavinsky J, et al. Role of neuropilin-1/semaphorin-3A signaling in the functional and morphological integrity of the cochlea. PLoS Genet. 2017;13(10):e1007048.

Paulsen AJ, Cruickshanks KJ, Pinto A, Schubert CR, Dalton DS, Fischer ME, et al. Neuroprotective factors and incident hearing impairment in the epidemiology of hearing loss study. Laryngoscope. 2019;129(9):2178-83.

Riquelme R, Cediel R, Contreras J, la Rosa Lourdes RD, Murillo-Cuesta S, Hernandez-Sanchez C, et al. A comparative study of age-related hearing loss in wild type and insulin-like growth factor I deficient mice. Front Neuroanat. 2010;4:27.

Nolan LS, Maier H, Hermans-Borgmeyer I, Girotto G, Ecob R, Pirastu N, et al. Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice. Neurobiol Aging. 2013;34(8):2077.e1-9.

Bouzid A, Smeti I, Dhouib L, Roche M, Achour I, Khalfallah A, et al. Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis. Biomarkers. 23(4):347-56.

Xu J, Zheng J, Shen W, Ma L, Zhao M, Wang X, et al. Elevated SLC26A4 gene promoter methylation is associated with the risk of presbycusis in men. Mol Med Rep. 2017;16(1):347-52.

Morgan A, Vuckovic D, Krishnamoorthy N, Rubinato E, Ambrosetti U, Castorina P, et al. Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. Eur J Hum Genet. 2019;27(1):70-9.

Falah M, Najafi M, Houshmand M, Farhadi M. Expression levels of the BAK1 and BCL2 genes highlight the role of apoptosis in age-related hearing impairment. Clin Interv Aging. 2016;11:1003-8.

Dong Y, Li M, Liu P, Song H, Zhao Y, Shi J. Genes involved in immunity and apoptosis are associated with human presbycusis based on microarray analysis. Acta Otolaryngol. 2014;134(6):601-8.

Pang J, Xiong H, Ou Y, Yang H, Xu Y, Chen S, et al. SIRT1 protects cochlear hair cell and delays age-related hearing loss via autophagy. Neurobiol Aging. 2019;80:127-37.

Izumikawa M, Minoda R, Kawamoto K, Abrashkin KA, Swiderski DL, Dolan DF, et al. Auditory hair cell replacement and hearing improvement by Atoh1 gene therapy in deaf mammals. Nat Med. 2005;11(3):271-6.

Clifford RE, Hoffer M, Rogers R. The genomic basis of noise-induced hearing loss: a literature review organized by cellular pathways. Otol Neurotol. 2016;37(8):e309-16.

Housley GD, Morton-Jones R, Vlajkovic SM, Telang RS, Paramananthasivam V, Tadros SF, et al. ATP-gated ion channels mediate adaptation to elevated sound levels. Proc Natl Acad Sci USA. 2013;110(18):7494-9.

Chen H, Xing Y, Xia L, Chen Z, Yin S, Wang J. AAV-mediated NT-3 overexpression protects cochleae against noise-induced synaptopathy. Gene Ther. 2018;25(4):251-9.

Wan G, Gómez-Casati ME, Gigliello AR, Liberman MC, Corfas G. Neurotrophin-3 regulates ribbon synapse density in the cochlea and induces synapse regeneration after acoustic trauma. ELife. 2014;3.