| Project/Area Number |
12470170
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | JICHI MEDICAL SCHOOL |
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Principal Investigator |
MOMOI Mariko JICHI MEDICAL SCHOOL, FACULTY OF MEDICINE, PROFESSOR, 医学部, 教授 (90166348)
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| Co-Investigator(Kenkyū-buntansha) |
SUWA Kiyotaka JICHI MEDICAL SCHOOL, FACULTY OF MEDICINE, ASSISTANT PROF., 医学部, 講師 (30285796)
YAMAGATA Takanori JICHI MEDICAL SCHOOL, FACULTY OF MEDICINE, ASSISTANT PROF., 医学部, 講師 (00239857)
津留 智彦 自治医科大学, 医学部, 講師 (90296111)
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| Project Period (FY) |
2000 – 2002
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| Project Status |
Completed (Fiscal Year 2002)
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| Budget Amount *help |
¥10,400,000 (Direct Cost: ¥10,400,000)
Fiscal Year 2002: ¥2,300,000 (Direct Cost: ¥2,300,000)
Fiscal Year 2001: ¥3,800,000 (Direct Cost: ¥3,800,000)
Fiscal Year 2000: ¥4,300,000 (Direct Cost: ¥4,300,000)
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| Keywords | autism / MBD1 / chromosome 7q / WNT / WNT2 / FOXP2 / セクレチン / セクレチン受容体 / EXT! / forkhead遺伝子ファミリー / MBD遺伝子ファミリ / MECP2 / MBD |
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| Research Abstract |
To investigate molecular pathology of autism, candidate genes were analyzed for their mutation in the affected individuals. Functional candidate genes studied included methylated-CpG-binding protein genes, G protein-coupled receptors and their ligands in the brain, transcription factors in the brain. Location-specific genes included several genes localized in 7q31. Among genes studied, we detected missense mutations in MBD1 gene, EXT1 gene, WNT gene and others, which have not been published.
All mutations were detected in affected boys. In some family, the father was a heterozygote with the mutated allele, and in one family the mother had the same mutated allele. No mutation was detected in FOXP2 gene that was linked with the genetic language disorder located in 7q31.
These results indicated that autism can be caused by one gene mutation as other genetic disorders, and the causative gene should be rather many. Molecular processes included in the regulation of gene expression like methylation should be an important process for causing autism.
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