A preclinical study to treat neuromuscular diseases caused by mutations in the small heat shock protein HSPB8

HSPB8 belongs to the "stress protein family". Patients with HSPB8 mutations have a progressive degeneration of peripheral nerves. More recently mutations in HSPB8 were reported in patients with myofibrillar myopathy. We generated a mouse model mimicking the human distal motor neuropathy by introducing a mutation in the HSPB8 gene (knock-in mouse). In addition we made a model in which we deleted HSPB8 (knock-out mouse) and these animals develop a mild myopathy. We aim to find drugs that can rescue or delay the neurodegeneration observed in the knock-in model, or that can result in a milder phenotype as seen in the knock-out animals. The compound acting on the expression of HSPB8 could be beneficial to treat patients affected with neuromuscular disorders.

Keywords:MODEL ORGANISMS, NEURO MUSCULAR DISEASES, MOLECULAR MECHANISMS

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