The role of IGF receptor adnormalities on IUGR short stature

IGF 受体异常对 IUGR 身材矮小的作用

• 批准号: 14570745
• 负责人: KANZAKI Susumu
• 金额: $ 2.24万
• 依托单位: Tottori University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2002
• 资助国家: 日本
• 起止时间: 2002 至 2003
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-14570745/
• 关键词: 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

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.

我们推测胰岛素样生长因子（IGF）1型受体（IGF-IR）基因突变可能是矮小的易感基因，并与胎儿宫内生长迟缓（IUGR）有关。因此，我们筛查了IUGR矮小儿童的IGF-IR基因异常，在一例6岁日本女孩（病例I）及其母亲（病例2）中发现了一个将切割位点由Arg-Lys-Arg-Arg变为Arg-Lys-Gln-Arg的杂合突变（R709 Q）。病例2的成纤维细胞中IGF-IR前体受体蛋白的含量高于正常成纤维细胞，而成熟的IGF-IR 6亚基蛋白含量低于正常成纤维细胞，提示该突变导致了IGF-IR前体受体向成熟IGF-IR的转化失败，从而导致了矮小和IUGR的发生。这项研究提供了新的和重要的信息之间的关系IGF-IR异常和IUGR身材矮小。

项目成果

Pericentric inversion inv(2)(p11.2q21) associated with Treacher Collins-Franceschetti syndrome

与 Treacher Collins-Franceschetti 综合征相关的中心周倒转 inv(2)(p11.2q21)

• 发表时间: 2002
• 期刊: Pediatrics International 44(3)
• 作者: Sawada H;Kawashima Y;Yamamoto Y;Egi T;Nagata I;Kanzaki S
• 通讯作者: Kanzaki S

Sawada H, et al.: "Pericentric inversion inv(2)(p11.2q21) associated with Treacher Collins -Franceschetti syndrome"Pediatrics International. 44・3. 328-329 (2002)

Sawada H 等人：“与 Treacher Collins -Franceschetti 综合征相关的中心周倒转 inv(2)(p11.2q21)”国际儿科 44・3 (2002)。

Sugimoto S: "Aplastic anemia during growth hormone (GH) treatment in a girl with idiopathic GH-deficiency"Endocrine Journal. 50(4). 469-471 (2003)

Sugimoto S：“患有特发性 GH 缺乏症的女孩在生长激素 (GH) 治疗期间出现再生障碍性贫血”内分泌杂志。

Tomita Y: "Re-evaluation of short latency somatosensory evoked potentials (P13, P14 and N18) for brainstem function in children who once suffered from deep coma"Brain and Development. 25(5). 352-356 (2003)

富田 Y：“对曾经患有深度昏迷的儿童的脑干功能进行短潜伏期体感诱发电位（P13、P14 和 N18）的重新评估”《大脑与发育》。

Asayama K: "Criteria for medical intervention in obese children : A new definition of 'Obesity disease' in Japanese children"Pediatrics International. 45(5). 642-646 (2003)

Asayama K：“肥胖儿童的医疗干预标准：日本儿童‘肥胖病’的新定义”国际儿科。