Last Updated 13 Jan 2021

Nav is a sodium ion channel that in humans is encoded by the gene

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It is highly expressed in pain-sensing neurons which are of two types, the nociceptive dorsal root ganglion (DRG) neurons, and sympathetic ganglion neurons, which are parts of the autonomic (involuntary) nervous system (Cox et al, 2006). In human’s mutation in SCN9A cause three human pain disorders, resulting in bi-allelic loss of function mutations in Channelopathy-associated insensitivity to pain (CIP), while activating mutations cause temporal pain in Paroxysmal External Pain Disorder (PEPD) and primary Erythermalgia (PE) (Drenth et al, 2007). Mutations in SCN9A lead to a complete inability to experience pain, which is due to a lack of protein production. In organisms such as mammals amphibians and reptiles, it is of utmost significances to have the intelligence to feel harmful situations (Shevelkin et al, 2005). Pain which is a sense protects us from the damage to the tissue by notifying us of situations that are able to cause injuries and stimulate tissue recovery.

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Combining investigation of Nav 1.7

Variation with Pain Cohorts

The increased activity of Nav1.7 due to SCN9A mutations is due to very serious pain connected to paroxysmal extreme pain disorder and primary erythermalgia which has a clearly noticeable association of several clinically recognizable features (Estacion et al. 2009). In this research they investigated 578 individuals who shared similar characteristics with osteoarthritis (OA), five showed an important relationship with pain score in a linear relapse which include a modification in age, sex, body mass index and age-gender interaction; rs6432896,

  • P = 0.048; rs7604448, P = 0.036; rs10930214,
  • P = 0.027; rs6746030,
  • P= 0.016; and rs7595255,
  • P = 0.02, after 27 SNPs were been screened in SCN9A.

Out of the five single nucleotide polymorphisms that showed an important association with pain, the last four were in a bond or union that lacked stability, after the disequilibrium bond analysis. Four of the SNPs which have important affiliation with pain score are all located in the introns and did not influence mRNA order. Cepeda et al (2007) state that SNP rs6746030 with little frequency encodes a tryptophan (Nav1.7-1150W), while a higher frequency encodes for arginine (Nav1.7-1150R) and is found on exon 18 and it influences the amino acid at point 1150 of Nav1.7, in other words, 1150R is a preserved amino acid and can be added to the normal action or work of Nav1.7. It is evident that an individual in the general public having rs6746030 A allele would be assumed to feel pain provocation when compared to others. The limitations of this research area in the modification of their age, gender, body mass index (BMI), and also the examination of individuals with similar characteristics (cohorts). Further research and examination could be carried out on SNP rs6746030 for analysis with additional pain cohorts and also with individuals having different characteristics because of its active result in regression examination.

Clinical analysis of rs6746030

Diatchenko et al (2005) point out that pain reaction to various investigative processes was examined. The result was achieved that C-fiber activation was actively combined with rs6746030. The result suggests that A-allele-driven clinical pain is mediated by the arousal or stimulation of C-fiber which indicates the feeling of diffuse, dull, aching pain. Diatchenko et al. (2007) further claim that individual having the genotype AA feels more pain while individual having GG genotype feels less pain because clinical and investigative pain analysis backs an additive idea for the result of rs6746030 alleles. Similarly, Waxman et al. (2005) point out that SCN9A is a consequential contributor to human pain sensation and clinical pain ailments and this is as a result of the stimulation of mutation in SCN9A which leads to an acute irregular pain while an unstimulated mutation results in a total absence of pain. Diatchenko et al. (2005) feel that pharmacological materials that alter the responsibility of SCN9A(Nav1.7) are possibly beneficial in the treatment of this condition. Individuals suffering from a distinct amount of pain for each stimulus is due to their rs6746030 genotype. As each individual seems to have a distinct genetic susceptibility to pain, further analysis should be carried out to be conscious of the fact that openness to various classes of anesthetic is also genetically determined.


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  2. Cox j.j, Reimann F, Nicholas A. K, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente E.M, Gorman S, Williams R, McHale D.P, Wood J.N, Gribble F.M, Woods C.G.(2006). An SCN9A channelopathy causes congenital inability to experience pain. Nature. 444:894–8.
  3. Diatchenko L, Nackley A.G, Tchivileva I.E, Shabalina S.A, Maixner W.(2007). Genetic architecture of human pain perception. Trends Genet. 23:605–613.
  4. Drenth J.P, Waxman S.G.(2007). Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders. J Clin Invest. 117:3603–9.
  5. Estacion M, et al. (2007). A sodium channel gene SCN9A polymorphism that increases nociceptor excitability. Ann Neurol. 66:862–866.
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