| Project/Area Number |
23591700
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Psychiatric science
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| Research Institution | Hamamatsu University School of Medicine |
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Principal Investigator |
AYYAPPAN Anitha 浜松医科大学, 子どものこころの発達研究センター, 助教 (70377753)
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| Co-Investigator(Kenkyū-buntansha) |
ISMAIL Thanseem 浜松医科大学, 医学部, 特任研究員 (60569846)
IWATA Keiko 福井大学, 子どものこころの発達研究センター, 特命助教 (30415088)
MATSUZAKI Hideo 福井大学, 子どものこころの発達研究センター, 教授 (00334970)
NAKAMURA Kazuhiko 弘前大学, 医学部, 教授 (80263911)
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| Project Period (FY) |
2011 – 2013
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2013: ¥390,000 (Direct Cost: ¥300,000、Indirect Cost: ¥90,000)
Fiscal Year 2012: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2011: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
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| Keywords | 児童精神医学 / 死後脳研究 / 児童・思春期精神医学 / ミトコンドリア / 死後脳 / 自閉症 / 一塩基多型 / 酸化ストレス |
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| Research Abstract |
Mitochondrial dysfunction (MtD) has been observed in approximately five percent of children with autism spectrum disorders (ASD). MtD could impair highly energy-dependent processes such as neurodevelopment, thereby contributing to autism. In this study, we carried out detailed analyses involving gene expression and genetic association studies of genes related to diverse mitochondrial functions. As a result, several genes showed brain region-specific expression alterations in subjects with autism compared to controls. MTX2, NEFL and SLC25A27 showed consistently reduced expression in the anterior cingulate gyrus, motor cortex and thalamus of autism subjects. NEFL and SLC25A27 showed genetic association with autism in Caucasian and Japanese samples, respectively. The expression of DNAJC19, DNM1L, LRPPRC, SLC25A12, SLC25A14, SLC25A24 and TOMM20 were reduced in at least two of the brain regions of autism patients. Our study brings to light new genes associated with MtD in autism.
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