| Project/Area Number |
14570745
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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 |
Pediatrics
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| Research Institution | Tottori University |
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Principal Investigator |
KANZAKI Susumu Tottori University, Faculty of Medicine, Professor, 医学部, 教授 (90224873)
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| Co-Investigator(Kenkyū-buntansha) |
NAGATA Ikuo Tottori University, Faculty of Medicine, Assistant Professor, 医学部, 講師 (50252846)
OKAMOTO Manabu Tottori University, Faculty of Medicine, Lecturer, 医学部, 助手 (40335518)
HANAKI Keiichi Tottori University, Faculty of Medicine, Associate Professor, 医学部, 助教授 (20238041)
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| Project Period (FY) |
2002 – 2003
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| Project Status |
Completed (Fiscal Year 2003)
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| Budget Amount *help |
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2003: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 2002: ¥2,200,000 (Direct Cost: ¥2,200,000)
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| Keywords | insulin-like growth factor / type 1 IGF receptor / short stature / insulin receptor / IUGR / 1型IGF受容体 / 胎内発育遅延性低身長 / IGF受容体 |
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| Research Abstract |
We hypothesized that mutations of insulin-like growth factor (IGF) receptor type 1 (IGF-IR) gene might predispose to short stature and associated with intrauterine growth retardation (IUGR). Therefore, we screened for abnormalities of IGF-IR gene in children with IUGR short stature.
A heterozygous mutation (R709Q) changing the cleavage site from Arg-Lys-Arg-Arg to Arg-Lys-Gln-Arg was identified in a 6-year-old Japanese girl (Case I) and her mother who also had IUGR short stature (Case 2). Fibroblasts from Case 2 contained more IGF-IR proreceptor protein and less mature 6 subunit protein compared to normal fibroblasts.
These findings strongly suggest that this mutation lead to failure of processing from IGF-IR proreceptor to mature IGF-IR, and caused short stature and IUGR. This study provides new and important information on the relation between IGF-IR anomalies and IUGR short stature.
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