Insulin-like growth factor (IGF)-I gene deletion

被引：27

作者：

Camacho-Hübner C. ^{[1
]}

Woods K.A. ^{[1
]}

Clark A.J.L. ^{[1
]}

Savage M.O. ^{[1
]}

机构：

[1] Paediatric Endocrinology Section, Department of Endocrinology, St. Bartholomew's Hospital, London

来源：

Reviews in Endocrine and Metabolic Disorders | 2002年 / 3卷 / 4期

关键词：

Growth; Growth hormone; IGF-I; IGF-I system; Insulin insensitivity;

D O I：

10.1023/A:1020957809082

中图分类号：

学科分类号：

摘要：

The comprehensive analysis of single and double-targeted mutagenesis of the genes encoding IGF-I, IGF-II and the type 1 IGF receptor demonstrated the critical role that these genes play in embryonic development [9-11]. The clinical studies of patients with genetic defects in the GH-IGF axis support the crucial role that IGF-I plays, not only in fetal growth but also in postnatal growth by mediating some of the growth-promoting effects of GH. The absence of circulating IGF-I as described in our patient and previously in patients with Laron syndrome has demonstrated the importance of circulating IGF-I in the feedback control of GH secretion [22,26]. Our studies have also shown that the absence of a functional IGF-I gene is compatible with life, but has marked effects in prenatal and postnatal linear growth and a significant impact in metabolic homeostasis, diminishing insulin sensitivity. The investigation of the IGF-I gene in children with severe growth retardation has expanded over the years [27,28]. Recent studies have investigated the association of possible genetic variations of the IGF-I gene with birth size (small for gestational age) in different populations [29,30]. Although the initial study did not find an association between IGF-I polymorphisms and birth size, a more recent study has shown transmission disequilibrium of two alleles in two different markers of the IGF-I gene in children with short stature born small for gestational age [30]. Therefore, allelic variance of the IGF-I gene may play a role in both prenatal and postnatal growth. Finally, the unravelling of genes in the GH-IGF system and their protein structures has enabled us to improve the diagnosis of IGF-I deficiency at the molecular level and to use appropriate doses of IGF-I treatment in affected individuals. © Kluwer Academic Publisher.

引用

页码：357 / 361

页数：4

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