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A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction

Robertson, Nahid G. ; Jones, Sherri M. ; Sivakumaran, Theru A. ; Giersch, Anne B.S. ; Jurado, Sara A. ; Call, Linda M. ; Miller, Constance E. ; Maison, Stéphane F. ; Liberman, M. Charles ; Morton, Cynthia C.

Human molecular genetics, 2008-11, Vol.17 (21), p.3426-3434 [Periódico revisado por pares]

Oxford: Oxford University Press

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Título:
A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction
Autor: Robertson, Nahid G. ; Jones, Sherri M. ; Sivakumaran, Theru A. ; Giersch, Anne B.S. ; Jurado, Sara A. ; Call, Linda M. ; Miller, Constance E. ; Maison, Stéphane F. ; Liberman, M. Charles ; Morton, Cynthia C.
Assuntos: Animals ; Biological and medical sciences ; Cochlear Duct - pathology ; Disease Models, Animal ; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology ; Evoked Potentials, Auditory, Brain Stem ; Extracellular Matrix Proteins ; Fundamental and applied biological sciences. Psychology ; Gene Knock-In Techniques ; Genetics of eukaryotes. Biological and molecular evolution ; Hearing Loss - genetics ; Medical sciences ; Mice ; Mice, Inbred C57BL ; Molecular and cellular biology ; Mutation, Missense ; Non tumoral diseases ; Otorhinolaryngology. Stomatology ; Proteins - genetics ; Vestibular Diseases - genetics ; Vestibular Function Tests
É parte de: Human molecular genetics, 2008-11, Vol.17 (21), p.3426-3434
Notas: Present address: Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA.
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Descrição: Mutations in COCH (coagulation factor C homology) are etiologic for the late-onset, progressive, sensorineural hearing loss and vestibular dysfunction known as DFNA9. We introduced the G88E mutation by gene targeting into the mouse and have created a CochG88E/G88E mouse model for the study of DFNA9 pathogenesis and cochlin function. Vestibular-evoked potential (VsEP) thresholds of CochG88E/G88E mice were elevated at all ages tested compared with wild-type littermates. At the oldest ages, two out of eight CochG88E/G88E mice had no measurable VsEP. Auditory brainstem response (ABR) thresholds of CochG88E/G88E mice were substantially elevated at 21 months but not at younger ages tested. At 21 months, four of eight CochG88E/G88E mice had absent ABRs at all frequencies tested and two of three CochG88E/+ mice had absent ABRs at three of four frequencies tested. Distortion product otoacoustic emission amplitudes of CochG88E/G88E mice were substantially lower than Coch+/+ mice and absent in the same CochG88E/G88E mice with absent ABRs. These results suggest that vestibular function is affected beginning as early as 11 months when cochlear function appears to be normal, and dysfunction increases with age. Hearing loss declines substantially at 21 months of age and progresses to profound hearing loss at some to all frequencies tested. This is the only mouse model developed to date where hearing loss begins at such an advanced age, providing an opportunity to study both progressive age-related hearing loss and possible interventional therapies.
Editor: Oxford: Oxford University Press
Idioma: Inglês

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A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction

Robertson, Nahid G. ; Jones, Sherri M. ; Sivakumaran, Theru A. ; Giersch, Anne B.S. ; Jurado, Sara A. ; Call, Linda M. ; Miller, Constance E. ; Maison, Stéphane F. ; Liberman, M. Charles ; Morton, Cynthia C.

Oxford: Oxford University Press

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