Schematic diagram of the potential molecular mechanism regarding cdh23 on congenital hearing loss. In WT, candidate genes (clic5b, myof, myo7bb) may be associated with the cytoskeleton of actin and participate in the movement of cilia in inner ear hair cells. Purine and amino acid metabolism yield sufficient ATP, and when ATP binds to the P2X7 receptor, these genes (atp1b2b, cacna1fa) may mediate the opening of related ion channels, thereby completing the acoustic-electric conversion. While in cdh23−/− embryos, purine metabolism is disrupted, resulting in a shortage of ATP, leading to dysfunction of the ion channel P2X7 receptor, and hence interrupting the acoustic-electric conversion, resulting in congenital hearing loss.
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Full text @ Front. Mol. Neurosci.
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