Chapter 5
Abnormal Pain Conditions in Humans Related to Genetic Mutations
Christopher Geoffrey Woods,
Christopher Geoffrey Woods
The Clinical Medical School, University of Cambridge, Cambridge, UK
Search for more papers by this authorChristopher Geoffrey Woods,
Christopher Geoffrey Woods
The Clinical Medical School, University of Cambridge, Cambridge, UK
Search for more papers by this authorBook Editor(s):Inna Belfer,
Luda Diatchenko,
Inna Belfer
Search for more papers by this authorLuda Diatchenko
Search for more papers by this authorSummary
This chapter describes the main genes with pain related function that have been identified through genetic screening of rare hereditary pain diseases. It details the Mendelian diseases of pain caused by mutations in the genes SCN9A, neurotrophic tyrosine kinase receptor type 1 gene (NTRK1), and nerve growth factor (NGF). These genes provide information about pain and the suffering pain causes. They illustrate how patient studies can produce results of great translational significance by guiding more basic research. The diseases detailed here are very rare, and the authors realize the effects of minor changes in these genes in the general population – for the amount of pain felt in common painful diseases, for pain threshold, and maybe even whether they are predictors for those at risk of neuropathic pain, for pain syndromes, and for response to analgesic strategies. The chapter discusses different pain phenotypes caused by mutations in the gene SCN9A.
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