From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V. (4th February 2014)

• Record Type: Journal Article
• Authors: Capsoni, Simona
• Is Part Of: European journal of neuroscience. Volume 39:Number 3(2014:Feb.)
• Page Start: 392
• Page End: 400
• Publication Date: 2014-02-04
• Subjects: Nervous system -- Periodicals; 612.8
• DOI: 10.1111/ejn.12461
• Languages: English
• ISSNs: 0953-816X

Abstract

<abstract abstract-type="main" id="ejn12461-abs-0001"> <title>Abstract</title> <p>Hereditary sensory and autonomic neuropathy type V (HSAN V) is an autosomal recessive disorder characterized by the loss of deep pain perception. The anomalous pain and temperature sensations are due to the absence of nociceptive sensory innervation. The neurotrophin nerve growth factor (NGF), by binding to tropomyosin receptor A (TrkA) and p75NTR receptors, is essential for the development and survival of sensory neurons, and for pain perception during adulthood. Recently a homozygous missense mutation (R100W) in the <italic>NGF</italic> gene has been identified in HSAN V patients. Interestingly, alterations in NGF signalling, due to mutations in the NGF <italic>TRKA</italic> gene, have also been involved in another congenital insensitivity to pain, HSAN IV, characterized not only by absence of reaction to painful stimuli, but also anhidrosis and mental retardation. These symptoms are absent in HSAN V patients. Unravelling the mechanisms that underlie the differences between HSAN IV and V could assist in better understanding NGF biology. This review highlights the recent key findings in the understanding of HSAN V, including insights into the molecular mechanisms of the disease, derived from genetic studies of patients with this disorder.</p> </abstract>