ArticleNeural development2019
Degeneration of saccular hair cells caused by MITF gene mutation.
Article in Neural development, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 20 citations in OpenAlex.
- Evolutionary analysis of genes associated with the sense of balance in semi-aquatic mammals.BMC ecology and evolution · 2025Article
- De-novo and genome-wide meta-analyses identify a risk haplotype for congenital sensorineural deafness in Dalmatian dogs.Scientific reports · 2022Article
- Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.Gene therapy · 2022Review
- Analysis ofAnimals : an open access journal from MDPI · 2021Article
- Viewing the current situation of pig model application in China's medical field from the application and funding of NSFC.Journal of otology · 2021Review
- Understanding the Pathophysiology of Congenital Vestibular Disorders: Current Challenges and Future Directions.Frontiers in neurology · 2021Review
- Transcript Profiles of Stria Vascularis in Models of Waardenburg Syndrome.Neural plasticity · 2020Article
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- Comparative Morphometric Study of the Osseous Labyrinth in Humans and Animal Models Using Centerline Analysis.Noise & healthArticle
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
backgroundWaardenburg syndrome (WS) is the consequence of an inherited autosomal dominant mutation which causes the early degeneration of intermediate cells of cochlear stria vascularis (SV) and profound hearing loss. Patients with WS may also experience primary vestibular symptoms. Most of the current WS studies did not discuss the relationship between WS and abnormal vestibular function. Our study found that a spontaneous mutant pig showed profound hearing loss and depigmentation. MITF-M, a common gene mutation causes type WS which affect the development of the intermediate cell of SV, was then identified for animal modeling.
resultsIn this study, the degeneration of vestibular hair cells was found in pigs with MITF-M. The morphology of hair cells in vestibular organs of pigs was examined using electron microscopy from embryonic day E70 to postnatal two weeks. Significant hair cell loss in the mutant saccule was found in this study through E95 to P14. Conversely, there was no hair cell loss in either utricle or semi-circular canals.
conclusionsOur study suggested that MITF-M gene mutation only affects hair cells of the saccule, but has no effect on other vestibular organs. The study also indicated that the survival of cochlear and saccular hair cells was dependent on the potassium release from the cochlear SV, but hair cells of the utricle and semi-circular canals were independent on SV.
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