Key Genes and Pathways Associated With Inner Ear Malformation in SOX10 p.R109W Mutation Pigs

Qi, Hao; Li, Liang; Chen, Wei; Jiang, Qingqing; Ji, Fei; Sun, Wei; Wei, Hong; Guo, Weiwei; Yang, Shiming

doi:10.3389/fnmol.2018.00181

Cited by 21 publications

(19 citation statements)

References 38 publications

(48 reference statements)

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“…Thus, these large animal models may extend translational proof-of-principle studies. China has established the largest pool of pig models and a large amount of mutations have been generated [ 52 , 53 ]. Interestingly, the mutation of SOX10 (R109W) in pigs by N-ethyl-N-nitrosourea mutagenesis causes inner ear malfunctions and hearing loss [ 52 ], and might represent a good model to test the gene therapy approach for hearing loss.…”

Section: Large Animal Models For Hearing Researchmentioning

confidence: 99%

Recent development of AAV-based gene therapies for inner ear disorders

et al. 2020

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Gene therapy for auditory diseases is gradually maturing. Recent progress in gene therapy treatments for genetic and acquired hearing loss has demonstrated the feasibility in animal models. However, a number of hurdles, such as lack of safe viral vector with high efficiency and specificity, robust deafness large animal models, translating animal studies to clinic etc., still remain to be solved. It is necessary to overcome these challenges in order to effectively recover auditory function in human patients. Here, we review the progress made in our group, especially our efforts to make more effective and cell typespecific viral vectors for targeting cochlea cells.

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Section: Large Animal Models For Hearing Researchmentioning

confidence: 99%

Recent development of AAV-based gene therapies for inner ear disorders

et al. 2020

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“…Further localization was carried out in 10 mutation families, and mutation of the SOX10 (R109W) gene was found to cause abnormal inner ear function similar to human Mondini malformation. Hao et al. (2018) studied the molecular mechanism of inner ear development in miniature pigs with Sox10 mutation and sensorineural deafness and found that Sox10 mutation resulted in incomplete partition of the cochlea, cystic apex, and cochlear defect and shortening.…”

Section: Resultsmentioning

confidence: 99%

Viewing the current situation of pig model application in China’s medical field from the application and funding of NSFC

Zhang

Yang

2021

Journal of Otology

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Background The National Natural Science Foundation of China (NSFC) is an important part of China’s innovation system. In the last decade, the pig has become more and more widely used in the field of medical science, especially in otology research. Objective By analyzing and summarizing the funding information over recent years, we intend to identify the characteristics and trends of funding for research using pig models and provide references for future development. Material and methods This is a comprehensive analysis of features in funding for research projects involving pig models by the NSFC in the past 10 years, with a focus on projects in the field of otolaryngology/head and neck surgery. Results Both the number and amount of funding provided by the NSFC for research involving pig models are on the rise with each passing year. Researchers at the PLA General Hospital have completed a number of studies using miniature pigs in cochlear morphology, electrophysiology, cochlear implantation, cochlear transcription analysis, gene therapy, inner ear disease modeling and Eustachian tube pathology modeling. Conclusion Pigs as an ideal large mammal model are well suited in the current national basic research strategy in China, and can help further strengthen China’s leading position in basic research in the world.

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“…A previous study showed that SOX10 mutation will cause both hair cell and SC loss in a heterozygous Dom mouse model [ 15 ]. In pigs, shorter cochlear conduct was induced by SOX10 p.Arg109Trp missense mutation [ 28 ]. There are complex regulatory networks between SCs and hair cells [ 29 , 30 ].…”

Section: Discussionmentioning

confidence: 99%

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II

et al. 2020

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Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss. It is responsible for 2–5% of congenital deafness. WS is classified into four types depending on the clinical phenotypes. Currently, pathogenic mutation of PAX3, MITF, EDNRB, EDN3, SNAI2, or SOX10 can cause corresponding types of WS. Among them, SOX10 mutation is responsible for approximately 15% of type II WS or 50% of type IV WS. We report the case of a proband in a Chinese family who was diagnosed with WS type II. Whole exome sequencing (WES) of the proband detected a novel heterozygous spontaneous mutation: SOX10 c.246delC. According to analysis based on nucleic acid and amino acid sequences, this mutation may produce a truncated protein, with loss of the HMG structure domain. Therefore, this truncated protein may fail to activate the expression of the MITF gene, which regulates melanocytic development and plays a key role in WS. Our finding expands the database of SOX10 mutations associated with WS and provides more information regarding the molecular mechanism of WS.

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Key Genes and Pathways Associated With Inner Ear Malformation in SOX10 p.R109W Mutation Pigs

Cited by 21 publications

References 38 publications

Recent development of AAV-based gene therapies for inner ear disorders

Recent development of AAV-based gene therapies for inner ear disorders

Viewing the current situation of pig model application in China’s medical field from the application and funding of NSFC

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II

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