Identification of a novel pain gene and its application to prevention and drug development

2016 Fiscal Year Final Research Report

• Project/Area Number: 26670330
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Hygiene and public health
• Research Institution: Kyoto University
• Principal Investigator: KOIZUMI Akio 京都大学, 医学研究科, 教授 (50124574)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 分子疫学 / 痛みの遺伝学 / 創薬

Outline of Final Research Achievements

Genetic investigation of 3 pedigrees of paroxysmal limb intermittent pain (PLIP), which had 28 members, revealed Nav1.9 R222H or R222S mutation as a causative polymorphism. These polymorphisms were not found in a 150 Japanese controls. Further nation-wide investigation found 24 new families suspected of PLIP. Genetic investigation revealed R222H in 5 families and 3 novel mutations in 3 families. In those families, limb pain was induced by low atmospheric pressure and cold weather in affected members. Their symptoms were ameliorated by growth and aging. Symptoms of GI tract were not detected. Knock-in mice which harbor R222S was proven to have elevated sensitivity to the pain by behavioral test batteries and by electrophysiological examinations. This study demonstrated that Nav1.9 causes PLIP and will pave a way to develop a prevention strategy and new therapeutic approach.

Free Research Field

環境衛生学