2013 Fiscal Year Final Research Report
Investigation on mitochondrial dysfunction in autism.
| 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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| Keywords | 児童精神医学 / 死後脳研究 |
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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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