| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| 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.
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