Developmental changes of ENaC expression and function in the inner ear of pendrin knock-out mice as a perspective on the development of endolymphatic hydrops.

[pendred syndrome]

Pendrin mutations cause enlarged vestibular aqueducts and various degrees of sensorineural hearing loss . The selective abolition of pendrin causes dilation of the membranous labyrinth known as endolymphatic hydrops , loss of the endocochlear potential , and consequently loss of hearing function . Because Na + transport is one of the most important driving forces for fluid transport , the epithelial Na + channel (ENaC ) is believed to play an important role in fluid volume regulation in the inner ear . Therefore , the dysfunction of Na + transport through ENaC by the acidification of endolymph in Pendred syndrome is one of the potential causes of endolymphatic hydrops . We investigated the changes of ENaC expression and function during the development of the pendrin knock-out mouse . In the cochlea , the expression of Î² and Î³ENaC was significantly increased at P 56 in Pds-/- mice compared with Pds +/+ mice . In the vestibule , the expression of Î²ENaC was significantly increased at P 56 , and Î³ENaC expression significantly increased from P 6 to P 56 in Pds-/- mice . The ENaC-dependent trans-epithelial current was not significantly different between Pds +/+ and Pds-/- mice in Reissner 's membrane or the saccular extramacular roof epithelium at P 0 , but the current was significantly increased in Pds-/- mice at P 56 compared with Pds +/+ mice . These findings indicate that the expression and function of ENaC were enhanced in Pds-/- mice after the development of endolymphatic hydrops as a compensatory mechanism . This result provides insight into the role of Na + transport in the development and regulation of endolymphatic hydrops due to pendrin mutations .

Diseases
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Diseases presenting "enlarged vestibular aqueducts" symptom

pendred syndrome

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