Abstract
Auditory neuropathy spectrum disorder is a unique group of hearing dysfunctions characterized by preserved outer hair cell function and abnormal neural conduction of the auditory pathway. However, the pathogenic mechanism underlying this disorder is not clear. We therefore performed a systematic review of genetic mouse models with different gene mutations to provide a valuable tool for better understanding of the process and the possible molecular mechanisms. Of the 18 articles retrieved, nine met the required criteria. All biochemical, histological, and electrophysiological results were recorded for each of the mouse models, as was the transgenic technology. This review provides a summary of different mouse models that may play an important role in the diagnosis and management of auditory neuropathy spectrum disorder in the future.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Delmaghani, S., del Castillo, F.J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., and Petit, C. (2006). Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet 38, 770–778.
Gibson, B.D., Sollas, A., Mattiace, L.A., Yu, G.P., and Kim, A.H. (2011). Role of Connexin 32 (Cx32) and Hearing Loss In Charcot-Marie-Tooth Syndrome (CMTS) A. Laryngoscope 121(Supplement 5), S321.
Gilels, F., Paquette, S.T., Zhang, J., Rahman, I., and White, P.M. (2013). Mutation of Foxo3 causes adult onset auditory neuropathy and alters cochlear synapse architecture in mice. J Neurosci 33, 18409–18424.
Giraudet, F., and Avan, P. (2012). Auditory neuropathies: understanding their pathogenesis to illuminate intervention strategies. Curr Opin Neurol 25, 50–56.
Hirst, J.A., Howick, J., Aronson, J.K., Roberts, N., Perera, R., Koshiaris, C., and Heneghan, C. (2014). The need for randomization in animal trials: an overview of systematic reviews. PLoS One 9, e98856.
Hooijmans, C.R., Rovers, M.M., de Vries, R.B., Leenaars, M., Ritskes-Hoitinga, M., and Langendam, M.W. (2014). SYRCLE’s risk of bias tool for animal studies. BMC Med Res Methodol 14, 43.
Jones, S.M., Jones, T.A., Johnson, K.R., Yu, H., Erway, L.C., and Zheng, Q.Y. (2006). A comparison of vestibular and auditory phenotypes in inbred mouse strains. Brain Res 1091, 40–46.
Katayama, K., Zine, A., Ota, M., Matsumoto, Y., Inoue, T., Fritzsch, B., and Aruga, J. (2009). Disorganized innervation and neuronal loss in the inner ear of Slitrk6-deficient mice. PLoS One 4, e7786.
Kikkawa, Y., Seki, Y., Okumura, K., Ohshiba, Y., Miyasaka, Y., Suzuki, S., Ozaki, M., Matsuoka, K., Noguchi, Y., and Yonekawa, H. (2012). Advantages of a mouse model for human hearing impairment. Exp Anim 61, 85–98.
Korver, A.M., van Zanten, G.A., Meuwese-Jongejeugd, A., van Straaten, H.L., and Oudesluys-Murphy, A.M. (2012). Auditory neuropathy in a low-risk population: a review of the literature. Int J Pediatr Otorhinolaryngol 76, 1708–1711.
Liberman, M.C., Tartaglini, E., Fleming, J.C., and Neufeld, E.J. (2006). Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype. J Assoc Res Otolaryngol 7, 211–217.
Manchaiah, V.K., Zhao, F., Danesh, A.A., and Duprey, R. (2011). The genetic basis of auditory neuropathy spectrum disorder (ANSD). Int J Pediatr Otorhinolaryngol 75, 151–158.
Matsunaga, T., Mutai, H., Kunishima, S., Namba, K., Morimoto, N., Shinjo, Y., Arimoto, Y., Kataoka, Y., Shintani, T., Morita, N., Sugiuchi, T., Masuda, S., Nakano, A., Taiji, H., and Kaga, K. (2012). A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy. Clin Genet 82, 425–432.
May, B.J., Lauer, A.M., and Roos, M.J. (2011). Impairments of the medial olivocochlear system increase the risk of noise-induced auditory neuropathy in laboratory mice. Otol Neurotol 32, 1568–1578.
McMahon, C.M., Patuzzi, R.B., Gibson, W.P., and Sanli, H. (2008). Frequency-specific electrocochleography indicates that presynaptic and postsynaptic mechanisms of auditory neuropathy exist. Ear Hear 29, 314–325.
Moser, T., Predoehl, F., and Starr, A. (2013). Review of hair cell synapse defects in sensorineural hearing impairment. Otol Neurotol 34, 995–1004.
Norrix, L.W., and Velenovsky, D.S. (2014). Auditory neuropathy spectrum disorder: a review. J Speech Lang Hear Res 57, 1564–1576.
Pennacchio, L.A. (2003). Insights from human/mouse genome comparisons. Mamm Genome 14, 429–436.
Zhang, Q., and Wang, Q. (2014). Review of recent research progress in molecular genetic mechanism of auditory neuropathy spectrum disorder. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 49, 1040–1045.
Rance, G. (2005). Auditory neuropathy/dys-synchrony and its perceptual consequences. Trends Amplif 9, 1–43.
Roux, I., Safieddine, S., Nouvian, R., Grati, M., Simmler, M.C., Bahloul, A., Perfettini, I., Le Gall, M., Rostaing, P., Hamard, G., Triller, A., Avan, P., Moser, T., and Petit, C. (2006). Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell 127, 277–289.
Santarelli, R. (2010). Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy. Genome Med 2, 91.
Schoen, C.J., Burmeister, M., and Lesperance, M.M. (2013). Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness. PLoS One 8, e56520.
Starr, A., Picton, T.W., Sininger, Y., Hood, L.J., and Berlin, C.I. (1996). Auditory neuropathy. Brain 119 (Pt 3), 741–753.
Starr, A., Sininger, Y.S., and Pratt, H. (2000). The varieties of auditory neuropathy. J Basic Clin Physiol Pharmacol 11, 215–230.
Tang, W., Zhang, Y., Chang, Q., Ahmad, S., Dahlke, I., Yi, H., Chen, P., Paul, D.L., and Lin, X. (2006). Connexin29 is highly expressed in cochlear Schwann cells, and it is required for the normal development and function of the auditory nerve of mice. J Neurosci 26, 1991–1999.
Thomas, K.R., and Capecchi, M.R. (1987). Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells. Cell 51, 503–512.
Vlastarakos, P.V., Nikolopoulos, T.P., Tavoulari, E., Papacharalambous, G., and Korres, S. (2008). Auditory neuropathy: endocochlear lesion or temporal processing impairment? Implications for diagnosis and management. Int J Pediatr Otorhinolaryngol 72, 1135–1150.
Zeng, F.G., Kong, Y.Y., Michalewski, H.J., and Starr, A. (2005). Perceptual consequences of disrupted auditory nerve activity. J Neurophysiol 93, 3050–3063.
Zheng, Q.Y., Johnson, K.R., and Erway, L.C. (1999). Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses. Hear Res 130, 94–107.
Zong, L., Guan, J., Ealy, M., Zhang, Q., Wang, D., Wang, H., Zhao, Y., Shen, Z., Campbell, C.A., Wang, F., Yang, J., Sun, W., Lan, L., Ding, D., Xie, L., Qi, Y., Lou, X., Huang, X., Shi, Q., Chang, S., Xiong, W., Yin, Z., Yu, N., Zhao, H., Wang, J., Wang, J., Salvi, R.J., Petit, C., Smith, R.J., and Wang, Q. (2015). Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. J Med Genet 52, 523–531.
Author information
Authors and Affiliations
Corresponding author
Additional information
This article is published with open access at link.springer.com
Rights and permissions
Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0), which permits use, duplication, adaptation, distribution, and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
About this article
Cite this article
Wang, L., Guan, J., Wang, H. et al. Understanding auditory neuropathy spectrum disorder: a systematic review in transgenic mouse models. Sci. China Life Sci. 59, 480–486 (2016). https://doi.org/10.1007/s11427-015-4985-2
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11427-015-4985-2