Molecular studies of the synaptic protein otoferlin

Molecular studies of the synaptic protein otoferlin

Müller, Alexandra

Doctoral thesis

Date of Examination: 2016-04-08

Date of issue: 2017-02-24

Advisor: Reisinger, Ellen Dr.

Referee: Brose, Nils Prof. Dr.

Referee: Dresbach, Thomas Prof. Dr.

Referee: Göpfert, Martin Prof. Dr.

Referee: Rizzoli, Silvio Prof. Dr.

Referee: Schmidt, Manuela Dr.

Persistent Address: http://hdl.handle.net/11858/00-1735-0000-0023-3DB5-0

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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