| Autor: |
van Looij MA; Department of ENT, Erasmus Medical Center, PO Box 2060, 3000 CB Rotterdam, The Netherlands. m.vanlooij@erasmusmc.nl, van der Burg H, van der Giessen RS, de Ruiter MM, van der Wees J, van Doorninck JH, De Zeeuw CI, van Zanten GA |
| Jazyk: |
angličtina |
| Zdroj: |
Neurobiology of disease [Neurobiol Dis] 2005 Dec; Vol. 20 (3), pp. 890-7. Date of Electronic Publication: 2005 Jul 01. |
| DOI: |
10.1016/j.nbd.2005.05.025 |
| Abstrakt: |
Human HDR (hypoparathyroidism, deafness and renal dysplasia)-syndrome is caused by haploinsufficiency of zinc-finger transcription factor GATA3. The hearing loss due to GATA3 haploinsufficiency has been shown to be peripheral in origin, but it is unclear to what extent potential aberrations in the outer hair cells (OHCs) contribute to this disorder. To further elucidate the pathophysiological mechanism underlying the hearing defect in HDR-syndrome, we investigated the OHCs in heterozygous Gata3-knockout mice at both the functional and morphological level. While the signal-to-noise ratios of distortion product otoacoustic emissions (DPOAE) in wild type mice did not change significantly during the first half-year of live, those in the heterozygous Gata3 mice decreased dramatically. In addition, both light microscopic and transmission electron microscopic analyses showed that the number of OHCs containing vacuoles was increased in the mutants. Together, these findings indicate that outer hair cell malfunctioning plays a major role in the hearing loss in HDR-syndrome. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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