Platform for conformation and screening of BCKDK deficiency; potentially treatable form of autism with epilepsy

2015 Fiscal Year Final Research Report

• Project/Area Number: 25461532
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tohoku University
• Principal Investigator: Sakamoto Osamu 東北大学, 医学(系)研究科(研究院), 准教授 (20333809)
• Co-Investigator(Kenkyū-buntansha): OHURA Toshihiro 東北大学, 医学系研究科, 非常勤講師 (10176828) ; UEMATSU Mitsugu 東北大学病院, 講師 (90400316)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 分岐鎖アミノ酸・ / 自閉症 / 新生児マススクリーニング

Outline of Final Research Achievements

Autism spectrum disorders are a genetically heterogeneous. Reentry inactivating mutations in the BCKDK gene, which codes for the kinase responsible for the negative regulation of the branched-chain α-keto acid dehydrogenase complex (BCKD), have been associated with a form. These patients and bckdk knockout mice showed abnormal plasma amino acid profiles (reduced BCAA values). These facts suggest that BCKDK deficiency might be screened biochemically. So we planned to establish the platform for conformation and screening of BCKDK deficiency.
Mutation analysis was performed to a case who showed slightly reduced BCAA values and marginal mental retardation. No substitution was found in BCKDK gene.
More than 130,000 newborns in Miyagi, Aomori and Yamagata prefecture were checked by newborn mas-screening among three years. The number of cases showed the low value of isoleucine + leucine (<45 nmlo/L) was three. All of them was very low weight infants and showed normal value by second tests.

Free Research Field

小児科学