Hereditary Deafness Caused by Connexin26 Mutations:a Literature Review
Connexin26(Cx26)is one of the most abundant gap junction proteins in the cochlea,which is encoded by the GJB2 gene and is crucial for the development and formation of the inner ear.Cx26 mutations can lead to varying degrees of hearing loss for patients.Previously,many researchers believed that the classic potassium ion theory was the principal mechanism leading to deafness in general.However,recent studies have found that K+circulation disorders in GJB2-related hearing loss are not directly related to the pathological phenotype of the cochlea,and the developmental disorders of the cochlea and the oxidative stress system both play a crucial role in this.This review summarizes the pathophysiological mechanisms on hearing loss caused by Cx26 mutations,including potassium ion cycling disorders,developmental disorders of the cochlea,and oxidative stress system imbalances and so on.Elucidating the pathomechanisms of hearing loss due to Cx26 mutations can help develop preventive and therapeutic strategies for hereditary deafness.
connexin26hereditary deafnessoxidative stresshearing loss
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