Genetic factors of the nociception
Abstract A significant number of diseases are associated with pain, thereby affecting the quality of life of many individuals. The perception of pain is influenced by a multitude of variables including gender, age, ethnicity and genetic factors. This review summarizes monogenic and multifactorial factors involved in pain mechanisms.
Keywords:genetics of the nociception, Nav1.7, SCN9A, hereditary sensory and authonimic neuropathy, pain insensitivity
Clin. Experiment. Surg. Petrovsky J. 2016. № 3. Р. 6–12.
Received: 01.07.2016. Accepted: 15.08.2016.
References
1. Diatchenko L., Slade G, Nackley A., et al. Genetic basis for individual variations in pain perception and the development of a chronic pain condition. Hum Mol Genet. 2005; Vol. 14: 135-43.
2. Mаntyselkа P.T., Turunen J.H., Ahonen R.S., Kumpusalo E.A. Chronic pain and poor self-rated health. JAMA. 2003; Vol. 290: 2435-442.
3. Stewart W.F., Ricci J.A., Chee E., Morganstein D., Lipton R. Lost productive time and cost due to common pain conditions in the US workforce. JAMA. 2003; Vol. 290: 2443-454.
4. OMIM. On-line Mendelian Inheritance in Men: www.omim.org.
5. Waxman S.G., Dib-Hajj S.D. Erythromelalgia: a hereditary pain syndrome enters the molecular era. Ann Neurol. 2005; Vol. 57: 785-8.
6. Tang Z., Chen Z., Tang B., et al. Primary erythromelalgia: a review. Orphanet J Rare Dis. 2015; Vol. 10: 127.
7. Drenth J.P.H., Finley W.H., Breedveld G.J., et al. The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32. Am J Hum Genet. 2001. Vol. 68: 1277-82.
8. Yang Y., Wang Y., Li S., Xu Z., et al. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet. 2004; Vol. 41: 171-4.
9. Cox J.J., Reimann F., Nicholas A.K., Thornton G., Roberts E., et al. An SCN9A channelopathy causes congenital inability to experience pain. Nature. 2006; Vol. 444: 894-8.
10. Kurban M., Wajid M., Shimomura Y., et al. A Nonsense Mutation in the SCN9A Gene in Congenital Insensitivity to Pain. Dermatology. 2010; Vol. 221 (2): 179-83.
11. Staud R., Price D.D., Janicke D., et al. Two Novel Mutations of SCN9A (Nav1.7) are Associated with Partial Congenital Insensitivity to Pain. Eur J Pain. 2011; Vol. 15 (3): 223-30.
12. Miranda C., Di Virgilio M., Selleri S., et al. Novel Pathogenic Mechanisms of Congenital Insensitivity to Pain with Anhidrosis Genetic Disorder Unveiled by Functional Analysis of Neurotrophic Tyrosine Receptor Kinase Type 1/Nerve Growth Factor Receptor Mutations. J Biol Chem. 2002; Vol. 277 (8): 6455-62.
13. Pеrez-Lоpez L.M, M. Cabrera-Gonzаlez, D. Gutiеrrez- de la Iglesia, et al. Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis. Case Rep Pediatr. 2015; Vol. 2015: 589852. Published online 2015 October 22. doi: 10.1155/2015/589852.
14. Holliday K.L., McBeth J. Genetic Basis of Pain Variability: Recent Advances. Curr Rheumatol Rep. 2011; Vol. 13 (6): 521-7.
15. Dorner T.E., Muckenhuber J., Stronegger W.J., et al. The impact of socio-economic status on pain and the perception of disability due to pain. Eur J Pain. 2011; Vol. 15 (1): 103-9.
16. Young E.E., Lariviere W.R., and Belfer I. Genetic Basis of Pain Variability: Recent Advances. J Med Genet. 2012; Vol. 49 (1): 1-9. doi:10.1136/jmedgenet-2011-100386.
17. Ruau D., Dudley J.T., Chen R., et al. Integrative Approach to Pain Genetics Identifies Pain Sensitivity Loci across Diseases. PLoS Comput Biol. Vol. 8 (6): e1002538. doi:10.1371/journal. pcbi.1002538.
18. Kim D.H., Dai F., Belfer I., et al. Polymorphic variation of the guanosine triphosphate cyclohydrolase 1 gene predicts outcome in patients undergoing surgical treatment for lumbar degenerative disc disease. Spine (Phila Pa 1976). 2010; Vol. 35 (21): 1909-14. [PubMed: 20838263]
19. Doehring A., Freynhagen R., Griessinger N, et al. Cross- sectional assessment of the consequences of a GTP cyclohydrolase 1 haplotype for specialized tertiary outpatient pain care. Clin J Pain. 2009; Vol. 25 (9):781-5.
20. Cummins T.R., Sheets P.L, Waxman S.G. The roles of sodium channels in nociception: implications for mechanisms of pain. Pain. 2007; Vol. 131 (3): 243-57.
21. Goldberg Y.P., Pimstone S.N., Namdari R., et al. Human Mendelian pain disorders: a key to discovery and validation of novel analgesics. Clin Genet. 2012; Vol. 82 (4): 367-7.
22. Emery E.C., Luiz A.P., Wood J.N. Nav1.7 and other voltage-gated sodium channels as drug targets for pain relief. Expert Opin Ther Targets. 2016; Vol. 20 (8): 975-83. doi: 10.1517/14728222.2016.1162295.
23. Majima T., Funahashi Y., Takai S., et al. Herpes Simplex Virus Vector-Mediated Gene Delivery of Poreless TRPV1 Channels Reduces Bladder Overactivity and Nociception in Rats. Hum Gene Ther. 2015; Vol. 26 (11): 734-42. doi: 10.1089/hum.2015.026.