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Gene mutated mouse with peripheral vestibular disorder Katsumasa Takahashi 1 1Department of Otolaryngology, Gunma University Graduate School of Medicine Keyword: 前庭障害 , vestibular disorder , モデル動物 , model animal , 形質膜カルシウムポンプ , PMCA , ATP2B , Wriggle Mouse Sagami , 耳石 , otoconia pp.167-179
Published Date 2005/4/10
DOI https://doi.org/10.11477/mf.1431100034
  • Abstract
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The“genome project”has revealed that about 95% of genes are common between human and mice. If a mouse gene is identified as involved in a disease, a human gene causing a hereditary disease may likewise be revealed. Mice are thus extremely valuable as an experimental animal, especially as a model of human disease. A total of 184 different types of mice with inner ear disorder have been reported, and the causative genes are known for 148 of these. Wriggle Mouse Sagami(wri/wri)is characterized by severe hearing loss and abnormal movements. Histopathological study has demonstrated that hair cells in the cochlea and saccule are degenerated, and the otoconia are absent from the saccule. Molecular biological study has revealed that the causal gene in this model is plasma membrane calcium ATPase type 2(PMCA2, also known as ATP2B2). Point mutation in a conserved domain of this gene results in an amino acid substitution. Sound or rotation stimuli activate stereocilia of hair cells, and Ca2+ then enters the cytoplasm through mechano-transduction or voltage-gated Ca2+ channels, which generate an action potential. PMCA2 is then necessary to pump Ca2+ from the cytoplasm into the extracellular space. PMCA displays 4 subtypes(1-4)and PMCA2 is present only in the inner ear. The PMCA mechanism is considered critical for cell survival, so hair cells disappear and the ability of supporting cells to form otoconia is lost.


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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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