genetic analysis of pain-related molecules in a patient with hereditary congenital indifference to pain

2014 Fiscal Year Final Research Report

• Project/Area Number: 25670670
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Anesthesiology
• Research Institution: Shinshu University
• Principal Investigator: SUGIYAMA Yuki 信州大学, 学術研究院医学系, 助教 (10468100)
• Co-Investigator(Kenkyū-buntansha): KAWAMATA Mikito 信州大学, 学術研究院医学系, 教授 (90315523) ; KAWAMATA Tomoyuki 和歌山県立医科大学, 医学部, 教授 (80336388) ; TANAKA Satoshi 信州大学, 学術研究院医学系, 准教授 (60293510)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 先天性無痛症

Outline of Final Research Achievements

We encountered patients, who manifested congenital indifference to pain, normal intelligence and repeated thermal injuries and were born from consanguineous parents. Some clinical symptoms and results of physiological examinations did not match those of congenital indifference to pain reported to date. We thus carried out a genetic analysis and examined neurophysiological function test. After approval of the study protocol by the ethical committee of our institution, informed consent was obtained from the patients.　Sensation thresholds for both vibration and change of skin temperature in the extremities were increased, and patients felt no painful perception in response to noxious thermal stimuli. As results of genetic analysis, SCN9A, which encodes Nav1.7, was considered to be a candidate gene of their symptom. A homozygous missense mutation 1144T> G in exon 10 was detected from direct sequencing of SCN9A.

Free Research Field

神経科学