Selected clinical syndromes of genetic variability in pain sensation

Abstract

Pain sensation is variable both in animals and humans. Factors that influence the threshold and intensity of pain include race, ethnic origin, sex, material standard of living, stress exposure, environmental conditions and genetic factors. Methods used to identify potential gene variants responsible for the development of pain syndromes include identification of mutation or single nucleotide polymorphism (SNP), analysis of genetic variability in twins, and recently, genome wide association study (GWAS). Pain sensation disorders are the result of a single mutation, as in Biemond syndrome (congenital analgesia), erythromelalgia and paroxysmal extreme pain disorder, or polygenic mutations, as in fibromyalgia and migraine. Sensation of pain starts when the stimulus acts through chemical mediators to activate nerve endings. The signal is then transduced through neurons and spinal pathways to the brain. This process involves synaptic neurotransmitters, membrane receptors, neuromodulators and cell structures that ultimately affect the intensity of pain. The objective of this paper is to present selected clinical syndromes of genetically determined pain sensation disorders and the use of genetic diagnostics in explaining their cause.