Study on the therapeutic effect of the chelating agent in Menkes disease by using microPET

2015 Fiscal Year Final Research Report

• Project/Area Number: 24591523
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Osaka City University
• Principal Investigator: SHINTAKU HARUO 大阪市立大学, 大学院医学研究科, 教授 (00206319)
• Co-Investigator(Kenkyū-buntansha): SHIOMI Susumu 大阪市立大学, 大学院医学研究科, 教授 (30170848) ; HAMAZAKI Takashi 大阪市立大学, 大学院医学研究科, 講師 (40619798) ; FUJIOKA Hiroki 大阪市立大学, 大学院医学研究科, 客員研究員 (70382083)
• Project Period (FY): 2012-04-01 – 2016-03-31
• Keywords: メンケス病 / 銅 / ATP7A / ジスルフィラム / ペニシラミン / マイクロペット / キレート剤 / 発達遅滞

Outline of Final Research Achievements

Menkes disease is a congenital copper metabolisc disorder, leading to both copper deficiency in brain and copper accumulation in the kidney due to copper transport disorder. Macula mice is used as Menkes disease model. Pretreatment with the lipophilic chelator disulfiram markedly increased copper uptake to the brain of macular mice. Pretreatment with the water-soluble chelator penicillamine enhanced urinary excretion and reduced copper accumulation in the kidney. Concomitant treatment with disulfiram and penicillamine retained the same effects. Combined use of disulfiram and penicillamine may improve clinical outcomes of Menkes disease. Therefore, it is possible to improve the neurologic outcome of Menkes disease, further revealed the possibility of improving the long-term prognosis of renal function.

Free Research Field

先天代謝異常症