New research findings by Prof. Vincent Timmerman’s group has revealed common hallmarks in motor neurons of patients with different subtypes of Charcot-Marie-Tooth disease (CMT) type 2, including impaired axonal transport and mitochondrial dysfunction. Targeting these underlying disease mechanisms could pave the way for treatments that can help a larger group of CMT patients.

New research from Prof. Vincent Timmerman’s lab, in collaboration with researchers from the University of Oxford, has elucidated the structural changes caused by a mutation in the molecular chaperone Hsp27 (HSPB1). Chaperones are a group of proteins that have functional similarity and assist in protein folding. This work not only sheds light on an important disease-causing mutation, it also reveals an important mechanism by which this chaperone functions.