How does mitochondrial dysfunction contribute to the CMT2F pathogenesis caused by HSPB1 mutations.

Mutations in the small heat shock protein B1 (HSPB1) cause an axonal variant of Charcot-Marie-Tooth neuropathy (CMT2F). It remains challenging to understand why mutations in an ubiquitously expressed chaperone only affect the motor and sensory nerves. Moreover, more than 80 genes can cause CMT and it is unknown how small heat shock proteins relate to those other CMT-subtypes. One interesting observation has been that the number of mitochondria is decreased in sensory neurons of post-symptomatic CMT2F mice. This project aims to decipher the mechanistic role of wild type and mutant HSPB1 in mitochondrial functioning.

Keywords:MOLECULAR MECHANISMS, MITOCHONDRIAL RESEARCH, NEURODEGENERATIVE DISORDERS

Disciplines:Genetics, Systems biology, Molecular and cell biology, Neurosciences, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing