Molecular studies of the synaptic protein otoferlin

by Alexandra Müller
Doctoral thesis
Date of Examination:2016-04-08
Date of issue:2017-02-24
Advisor:Dr. Ellen Reisinger
Referee:Prof. Dr. Nils Brose
Referee:Prof. Dr. Thomas Dresbach
Referee:Prof. Dr. Martin Göpfert
Referee:Prof. Dr. Silvio Rizzoli
Referee:Dr. Manuela Schmidt
Persistent Address: http://dx.doi.org/10.53846/goediss-6128

 

 

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Abstract

English

Deafness is an interesting and intensely studied topic and can be caused by different, genetic as well as environmental, factors. One important cause of deafness are mutations in the otoferlin gene leading to non-syndromic deafness DFNB9. Interestingly, some mutations lead to temperature induced hearing loss where patients have normal to impaired hearing when their body temperature is normal but become deaf as soon as they become febrile. Different mutations of otoferlin were analyzed using biolystic transfection, mass spectrometry, real-time PCR and fluorescence microscopy were used.
Keywords: Otoferlin; Hearing; Gene Gun; Temperature sensitivity; Real-time PCR; Cloning
 
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