Molecular biological research of HSPB8 mutations in relation to hereditary neuron disorders.

The distal hereditary motor neuropathies (HMN) are a heterogeneous group of disorders characterized by the selective degeneration of motor neurons of the peripheral nervous system. Two disease causing genes, HSPB8 and HSPB1, were identified in our group for distal HMN type II. These genes belong to the super family of the small heat shock proteins (sHSPs). In this project we try to find an answer to the question why mutations in HSPB8 selectively affect peripheral motor neurons. Through in vitro cellular studies we investigate the functional consequences of mutations in HSPB8. Furthermore we will generate a knock-in mouse model to analyse the pathomechanism directly.

Keywords:NEURONS

Disciplines:Biochemistry and metabolism, Medical biochemistry and metabolism