Elucidation of causal genes of monogenic diabetes and it applies to the medical treatment
Project/Area Number |
17K09842
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Metabolomics
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Research Institution | Wakayama Medical University |
Principal Investigator |
Furuta Hiroto 和歌山県立医科大学, 医学部, 准教授 (90238684)
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Project Period (FY) |
2017-04-01 – 2020-03-31
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Project Status |
Completed (Fiscal Year 2019)
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Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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Keywords | 糖尿病 / 遺伝因子 / インスリン遺伝子 / ABCC8遺伝子 / 高インスリン血症性新生児低血糖症 / ABCC8遺伝子 / HNF1A遺伝子 |
Outline of Final Research Achievements |
We searched for the causative gene using a new method such as whole exome sequence analysis in a diabetic family with suspected single gene abnormality as the cause of diabetes. We reported that the mutation in the intron is also important as a cause in the insulin gene. Moreover, we reported that in the ABCC8 gene, in addition to activation mutations, inactivation mutations that are known to cause hypoglycemia due to hypersecretion of insulin are also important for the cause of diabetes.
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Academic Significance and Societal Importance of the Research Achievements |
糖尿病の発症には過食や運動不足といった環境因子に加え遺伝因子が深く関係している。今回得られた、原因遺伝子の探索においてはイントロン内の変異によるスプライシング異常もまた重要であることや低血糖症から糖尿病に移行する遺伝子変異が存在することなどの知見は、糖尿病の病態解明の一助になるものと考えている。
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Report
(4 results)
Research Products
(16 results)
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[Journal Article] Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young-onset diabetes with exome sequencing2020
Author(s)
Matsutani, N. Furuta, H. Matsuno, S. Oku, Y. Morita, S. Uraki, S. Doi, A. Furuta, M. Iwakura, H. Ariyasu, H. Nishi, M. Akamizu, T.
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Journal Title
J Diabetes Investig
Volume: 11
Issue: 2
Pages: 333-336
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] A family in which people with a heterozygous ABCC8 gene mutation (p.Lys1385Gln) have progressed from hyperinsulinemic hypoglycemia to hyperglycemia2020
Author(s)
Karatojima, M. Furuta, H. Matsutani, N. Matsuno, S. Tamai, M. Komiya, K. Morita, S. Uraki, S. Doi, A. Furuta, M. Iwakura, H. Ariyasu, H. Nishi, M. Akamizu, T.
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Journal Title
J Diabetes
Volume: 12
Issue: 1
Pages: 21-24
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Neonatal diabetes caused by the heterozygous Pro1198Leu mutation in the ABCC8 gene in a male infant: 6-year clinical course.2020
Author(s)
Uraki S, Furuta H, Miyawaki M, Matsutani N, Shima Y, Iwamoto M, Matsuno S, Morita S, Furuta M, Doi A, Iwakura H, Ariyasu H, Nishi M, Suzuki H, Akamizu T.
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Journal Title
J Diabetes Investig.
Volume: 11(2)
Issue: 2
Pages: 502-505
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Identification of a variant associated with early-onset diabetes in the intron of the insulin gene with exome sequencing2018
Author(s)
Matsuno, S., Furuta, H., Kosaka, K., Doi, A., Yorifuji, T., Fukuda, T., Senmaru, T., Uraki, S., Matsutani, N., Furuta, M., Mishima, H., Iwakura, H., Nishi, M., Yoshiura, K., Fukui, M. and Akamizu, T.
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Journal Title
J Diabetes Investig
Volume: Epub ahead of print
Issue: 4
Pages: 947-950
DOI
Related Report
Peer Reviewed / Open Access
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