2011 Fiscal Year Final Research Report
Elucidation of the molecular etiology and pathophysiology of neonatal diabetes mellitus
| Project/Area Number |
21790965
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Asahikawa Medical College |
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Principal Investigator |
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| Project Period (FY) |
2009 – 2011
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| Keywords | 新生児 / 糖尿病 / 遺伝子 |
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| Research Abstract |
Molecular basis for 53 out of 65 Japanese patients with neonatal diabetes mellitus were identified. Chromosome 6q24 abnormalities have exclusively been concerned with transient neonatal diabetes with incidence of 30%. KCNJ11 gene mutations were identified with most of patients with permanent neonatal diabetes mellitus. ABCC8 gene, INS gene, GATA6 gene and FOXP3 gene mutations were also causative gene for Japanese patients. We firstly reported that partial uniparental paternal disomy of chromosome 6 caused transient neonatal diabetes. In addition, we identified the GATA6 mutations in the patients with pancreatic agenesis, congenital heart disease and congenital gastrointestinal tract anomaly.
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