Linkage Analysis and Functional Evaluation of Inherited Clinical Pain Conditions

Because ion channel function is a fundamental element of any nociceptive signalling, it is not surprising that numerous channelopathies have recently emerged as likely causes of several inherited clinical pain conditions. For example, numerous missense mutations in the Na_v 1.7 gene SCN9A have recently been linked to a congenital inability to sense pain. Establishing the link between a clinical pain phenotype to an inherited molecular dysfunction of a specific protein has its challenges and requires the collaboration between many specialists. However, once established, such a linkage offers the promise of a powerful and elegant way to mechanistically explain the aspects of the disease studied.