Dermatology in the Postgenomic Era

Abstract

In 2001, JAMA and its related journals published a special genomics issue at a time when the sequencing of the human genome was finishing. 1 This issue of the Archives on clinically relevant genetics and genomics comes a mere 7 years later and heralds the rapid progress in deciphering the human genome and the genetic basis of disease. This issue showcases a few of the latest advances in clinical genetics of the skin. While scientific progress opens opportunities for medical breakthroughs, it also engenders additional challenges that need to be addressed in the years to come.

Sodium channel Nav1.7 immunoreactivity in painful human dental pulp and burning mouth syndrome

“…There are 9 sub-types of sodium (Na v ) channels in humans, and changes in their expression may underlie hypersensitivity in pain states [ 12 ]. A subset of voltage-gated sodium channels that include Na v 1.3, Na v 1.7, Na v 1.8 and Na v 1.9, have been shown to modulate pain [ 4 , 13 ]. These isoforms display unique expression patterns within specific tissues [ 12 ], and are up- or down-regulated after injury to the nervous system [ 11 ].…”

“…The key role of Na v 1.7 channels in pain conduction was confirmed in recent studies of clinical genetic disorders. Gain-of-function mutations in Na v 1.7 have been shown to cause primary erythermalgia and familial rectal pain, recently renamed as paroxysmal extreme pain disorder [ 13 , 19 ], while loss-of-function mutations result in congenital insensitivity to pain [ 14 ]. Relatively few studies have evaluated expression of Na v 1.7 in acquired clinical pain states, and even fewer within trigeminal pain states [ 2 , 20 - 25 ].…”