5. Abnormal Pain Conditions in Humans Related to Genetic Mutations

  1. Inna Belfer and
  2. Luda Diatchenko
  1. Christopher Geoffrey Woods

Published Online: 22 NOV 2013

DOI: 10.1002/9781118398890.ch5

Pain Genetics: Basic to Translational Science

Pain Genetics: Basic to Translational Science

How to Cite

Woods, C. G. (2014) Abnormal Pain Conditions in Humans Related to Genetic Mutations, in Pain Genetics: Basic to Translational Science (eds I. Belfer and L. Diatchenko), John Wiley & Sons, Inc, Hoboken, NJ. doi: 10.1002/9781118398890.ch5

Author Information

  1. The Clinical Medical School, University of Cambridge, Cambridge, UK

Publication History

  1. Published Online: 22 NOV 2013
  2. Published Print: 3 JAN 2014

ISBN Information

Print ISBN: 9781118398845

Online ISBN: 9781118398890

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Keywords:

  • abnormal pain conditions;
  • genetic mutations;
  • Mendelian diseases;
  • nerve growth factor (NGF);
  • NTRK1;
  • pain phenotypes;
  • SCN9A

Summary

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.