IGF-Related Proteins at Birth in a Case of Antenatally Diagnosed Silver-Russell Syndrome

Fukushima, Kotaro; Komatsu, Hajime; Matsumoto, Megumi; Kobayashi, Hiroaki; Tsukimori, Kiyomi; Shoji, Shuichi; Nakano, Hitoo

doi:10.1203/00006450-200203000-00010

Cited by 8 publications

(8 citation statements)

References 19 publications

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“…This genetic alteration in ring chromosome 15 is found in patients with Silver-Russell Syndrome who have early IUGR, microcephaly, atrial and ventricular septal defects, and sometimes delayed motor development and impaired psychosocial skills (Fukushima et al, 2002;Raile et al, 2006).…”

Section: Humans (Gene/chromosome Alterations)mentioning

confidence: 99%

Maternal‐placental insulin‐like growth factor (IGF) signaling and its importance to normal embryo‐fetal development

Bowman

Streck

Chapin

2010

Birth Defects Research Pt B

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As background for an antibody-based therapeutic program against the IGF receptor, we undertook a review of available information on the early pregnancy-specific regulation and localization of IGFs, IGF-binding proteins (BPs), IGFBP-specific proteases, and the type 1 IGF receptor relative to placental maintenance, function of placental nutrient transporters, placental cellular differentiation/turnover/apoptosis, and critical hormone signaling needed to maintain pregnancy. Possible adverse outcomes of altered IGF signaling include prenatal loss, fetal growth retardation, and maldevelopment are also discussed. It appears that the IGF axes in both the conceptus and mother are important for normal embryo-fetal growth. Thus, all molecules (i.e., both small and large) that disrupt the IGF axis could be expected to have some degree of fetal consequences.

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Section: Humans (Gene/chromosome Alterations)mentioning

confidence: 99%

Maternal‐placental insulin‐like growth factor (IGF) signaling and its importance to normal embryo‐fetal development

Bowman

Streck

Chapin

2010

Birth Defects Research Pt B

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“…It has been concluded that hemizygosity for IGFIR can cause primary IGF-I resis- tance despite normal or even elevated GH and/or IGF-I serum concentrations. Patients with loss of material from the distal arm of chromosome 15 show intrauterine growth retardation, postnatal growth deficits, and in addition occasionally craniofacial and skeletal abnormalities and mild to moderate mental retardation (Table 1) [22,23,24,25,26].…”

Section: Monoallelic Loss Of Chromosome 15 Ring Chromosomes and Delementioning

confidence: 99%

Clinical Examples of Disturbed IGF Signaling: Intrauterine and Postnatal Growth Retardation due to Mutations of the Insulin-Like Growth Factor I Receptor (IGF-IR) Gene

Kieß¹,

Kratzsch

Keller³

et al. 2005

Rev Endocr Metab Disord

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“…In addition, the administration of recombinant IGFBP-1 to both hypophysectomized rats as well as IGFBP-1 transgenic mice show impaired fetal and postnatal growth and brain development (39,40). However, the IGFBP-3 level in cord blood (22) and in serum (this study) of patients with a terminal deletion of the long arm of chromosome 15 did not significantly differ from normal controls and the IGFBP pattern in the serum of our patient was also unchanged. However, the abundance of IGFBPs including IGFBP-3 in the medium of the patient's fibroblasts was higher than in control cells which might be due to a less efficient degradation of IGFBP-3 by cell-associated IGFBP-3 protease(s) compared with control cells (Fig.…”

Section: Discussionmentioning

confidence: 44%

Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblasts

Hammer

Kutsche

Haag

et al. 2004

European Journal of Endocrinology

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Objective: It has been suggested that mono-allelic deletion of the IGF-I receptor gene is causally related to severe intrauterine and postnatal growth deficiency whereas no IGF-I resistance was observed in the patients' fibroblasts. The expression and regulation of the growth-modulating IGF binding proteins (IGFBPs) have been investigated in serum and fibroblasts of a short girl with mono-allelic loss of the distal long arm of chromosome 15 (15q26.1-qter). Patient and methods:The mono-allelic loss of the IGF-I receptor (IGF1R) gene was confirmed in a child with prenatal and severe postnatal growth retardation by fluorescence in situ hybridization, and was evaluated on the protein level in fibroblasts of the patient by FACS analysis and IGF cross-linkage. Additionally, expression of IGFBPs and cell-mediated degradation of IGFBP-3 were examined in the patient's fibroblasts. Results: Levels of GH, IGF-I, and IGFBP-3 were above the 95th percentile in the serum of the 3-yearold girl with a mono-allelic deletion of the IGF1R gene, suggesting IGF-I resistance. In the patient's fibroblasts the IGF-I receptor concentration was half that in control cells. Whereas the pattern of secreted IGFBPs in response to IGFs was not altered, the abundance of secreted IGFBPs was higher in the patient's cells than in controls. Moreover, fibroblast-mediated degradation of 125 I-labeled IGFBP-3 appears to be reduced in the patient's fibroblasts. The higher abundance of IGFBPs in the patient's fibroblasts might be responsible for the lack of IGF-I-stimulated [a-1-14 C]methylaminoisobutyric acid transport. Conclusion: Our results suggest that the expression and regulation of IGFBPs in tissues from patients with mono-allelic deletion of the IGF-I receptor gene may lead to IGF sequestration and contribute to IGF-I resistance and growth retardation.European Journal of Endocrinology 151 521-529

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IGF-Related Proteins at Birth in a Case of Antenatally Diagnosed Silver-Russell Syndrome

Cited by 8 publications

References 19 publications

Maternal‐placental insulin‐like growth factor (IGF) signaling and its importance to normal embryo‐fetal development

Maternal‐placental insulin‐like growth factor (IGF) signaling and its importance to normal embryo‐fetal development

Clinical Examples of Disturbed IGF Signaling: Intrauterine and Postnatal Growth Retardation due to Mutations of the Insulin-Like Growth Factor I Receptor (IGF-IR) Gene

Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblasts

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