New mouse model of HSAN IV carrying the TrkA R649W mutation mimics human disease
May 3, 2023
Nerve growth factor (NGF) actions are involved in pain perception and mediated via the tyrosine kinase TrkA (tropomyosin receptor kinase A) in neural cells. Mutations in the gene encoding for TrkA cause hereditary sensory and autonomic neuropathy type IV (HSAN IV), a rare autosomal recessive disorder characterized by loss of responses to noxious stimuli, anhidrosis and cognitive impairment. Until now, appropriate animal models to study the mechanisms underlying HSAN IV were missing.