Neuropathophysiology of congenital insensitivity to pain with anhidrosis and physiological functions of nerve growth factor (NGF)-dependent neurons

2017 Fiscal Year Final Research Report

• Project/Area Number: 26461548
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Kumamoto University
• Principal Investigator: Indo Yasuhiro 熊本大学, 医学部附属病院, 講師 (40244131)
• Project Period (FY): 2014-04-01 – 2018-03-31
• Keywords: 先天性無痛無汗症 / 神経成長因子 / 神経成長因子受容体 / 痛み / 内感覚 / 交感神経 / 情動 / 恒常性

Outline of Final Research Achievements

Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder characterized by insensitivity to pain, anhidrosis (the inability to sweat), and various degrees of mental retardation, as well as characteristic behaviors. CIPA is caused by loss-of-function mutations in NTRK1, the gene encoding a receptor tyrosine kinase for nerve growth factor. This study has explored various brain regions that express NTRK1 in normal individuals, based on data from the Allen Human Brain Atlas, and examined putative functions of these regions, together with neurological findings and behaviors observed in patients with CIPA. These brain regions communicate with various regions that play critical functions in pain and sympathetic control of homeostasis of the body, as well as emotional responses. Various symptoms related to the central nervous system are probably due to neuronal dysfunctions of these brain regions.

Free Research Field

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