| Project/Area Number |
13671206
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Metabolomics
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| Research Institution | KURUME UNIVERSITY |
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Principal Investigator |
OTABE Shuichi Kurume University School of Medicine, Associate, 医学部, 助手 (70194553)
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| Co-Investigator(Kenkyū-buntansha) |
YAMADA Kentaro Kurume University School of Medicine, Associate Professor, 医学部, 助教授 (10191305)
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| Project Period (FY) |
2001 – 2002
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| Project Status |
Completed (Fiscal Year 2002)
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| Budget Amount *help |
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2002: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 2001: ¥2,200,000 (Direct Cost: ¥2,200,000)
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| Keywords | PEK / EIF2AK gene / Early onset Type II diabetes / Gene screening / MODY / 糖尿病 / 遺伝子多型 |
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| Research Abstract |
The Wolcott-Rallison syndrome (WRS) is a autosomal recessive disorder characterized by permanent neonatal or early infancy diabetes and at a later age by multiple epiphysial dysplaia, osteoporosis, growth retardation and frequent multisystemic manifestations. Pancreatic beta-cell destruction associated with WRS suggests that the biological process involved might be relevant to otherforms of non-auto-immune diabetes, and particularly to young onset forms of Type II diabetes mellitus including MODY type. These report lead us to screen by direct sequencing the 17 exons of the gene in unrelated 40 probands of early onset Type II diabetes with age at onset < 20 years. The 17 exons of this gene and the intron-exon boundaries were sequenced on PCR-amplified in exons and flanking intronic regions and a new mutation was not detected. In conclusion, we didn't detect any mutation of PEK/EIF2AK gene responsible for overt diabetes in early onset Type II diabetes in the Japanese population, suggesting that EIF2AK gene is not likely to play a major part in monogenic forms Type II diabetes in our study. Therefore, other genes, for example like MODY X genes, might contribute to the genetic risk of Type II diabetes, especially in the early onset diabetes in Japanese population.
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