IGF system in children with congenital disorders of glycosylation

Miller, Bradley S.; Khosravi, M. Javad; Patterson, Marc C.; Conover, Cheryl A.

doi:10.1111/j.1365-2265.2009.03531.x

Cited by 34 publications

(51 citation statements)

References 27 publications

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“…Levels of (non-glycosylated) IGF-1, IGF-BP3 and ALS were also found to be reduced in other CDG patients, contributing to their poor linear growth. 1,4 Decreased transferrin galactosylation on mass spectrometry is a typical finding in patients with PGM1 deficiency. During in vitro studies with patient fibroblasts, improved glycosylation was demonstrated with galactose supplements.…”

Section: Discussionmentioning

confidence: 99%

PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure

Zeevaert¹,

Scalais

Muiño-Mosquera³

et al. 2016

Acta Clinica Belgica

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Section: Discussionmentioning

confidence: 99%

PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure

Zeevaert¹,

Scalais

Muiño-Mosquera³

et al. 2016

Acta Clinica Belgica

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“…However, levels of insulin-like growth factor 1 (IGF-1) and IGF-binding protein 3 were low, as they are in patients with CDG-Ib, a glycosylation disorder in which dietary supplementation with mannose improves glycosylation and growth. 3,25 A detailed discussion of the literature concerning the role of glycosylation in the gonadotropin and IGF-1 systems is provided in the Supplementary Appendix.…”

Section: Discussionmentioning

confidence: 99%

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Tegtmeyer¹,

Rust²,

et al. 2014

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BACKGROUND Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest. METHODS Homozygosity mapping followed by whole-exome sequencing was used to identify a mutation in the gene for phosphoglucomutase 1 (PGM1) in two siblings. Sequencing identified additional mutations in 15 other families. Phosphoglucomutase 1 enzyme activity was assayed on cell extracts. Analyses of glycosylation efficiency and quantitative studies of sugar metabolites were performed. Galactose supplementation in fibroblast cultures and dietary supplementation in the patients were studied to determine the effect on glycosylation. RESULTS Phosphoglucomutase 1 enzyme activity was markedly diminished in all patients. Mass spectrometry of transferrin showed a loss of complete N-glycans and the presence of truncated glycans lacking galactose. Fibroblasts supplemented with galactose showed restoration of protein glycosylation and no evidence of glycogen accumulation. Dietary supplementation with galactose in six patients resulted in changes suggestive of clinical improvement. A new screening test showed good discrimination between patients and controls. CONCLUSIONS Phosphoglucomutase 1 deficiency, previously identified as a glycogenosis, is also a congenital disorder of glycosylation. Supplementation with galactose leads to biochemical improvement in indexes of glycosylation in cells and patients, and supplementation with complex carbohydrates stabilizes blood glucose. A new screening test has been developed but has not yet been validated. (Funded by the Netherlands Organization for Scientific Research and others.)

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“…To the contrary, we did not observe any N-glycosylation site in all mammalian IGFBP-2. However, the N-glycosylation had been found in human IGFBP-3 and -4 (Rajaram et al 1997;Firth and Baxter 1999) and did not affect IGF binding, but probably could prolong the half-life of IGFBP in the circulation and promote its interaction with the cell surface Baxter 1999, 2002;Miller et al 2009). In fish IGFBP-2, because of lack of HBD, whether the N-glycosylated IGFBP-2 can bind to proteoglycans to associate with the cell surface or the extracellular matrix, and thus plays IGF-independent action needs more evidences and further reassessments.…”

Section: Discussionmentioning

confidence: 97%

Cloning, molecular characterization and expression analysis of insulin-like growth factor binding protein-2 (IGFBP-2) cDNA in goldfish, Carassius auratus

Chen

Zhang

et al. 2014

Fish Physiol Biochem

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In the present study, a full-length cDNA encoding the insulin-like growth factor binding protein-2 (IGFBP-2) was cloned from the liver of goldfish (Carassius auratus) by rapid amplification of cDNA ends technique. The goldfish IGFBP-2 cDNA sequence was 1,513 bp long and had an open reading frame of 825 bp encoding a predicted polypeptide of 274 amino acid residues. Semi-quantitative RT-PCR results revealed that goldfish IGFBP-2 mRNA was expressed in all detected tissues. In liver, central nervous system and pituitary gland, goldfish IGFBP-2 expressed at high levels, followed by anterior intestine, middle intestine and kidney. In posterior intestine, ovary, skin, fat, spleen, muscle and gill, the goldfish IGFBP-2 expression levels were very low. Fasting and refeeding experiment showed that the mRNA expression of goldfish IGFBP-2 was up-regulated significantly in liver compared to the fed group and restored rapidly to normal level after refed. However, the mRNA expressions of IGFBP-2 in hypothalamus and pituitary of goldfish were insensitive to fasting. Furthermore, the mRNA expressions of IGFBP-2 in hypothalamus, pituitary and liver were varied in periprandial changes and significantly down-regulated at 2 and 4 h after meal. These results imply that the IGFBP-2 mRNA expression may be associated with anabolic and catabolic metabolism and regulated by metabolic factors in goldfish.

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IGF system in children with congenital disorders of glycosylation

Abstract: Inadequate glycosylation of IGFBP-3 and ALS has a negative effect on the function of these proteins in vivo. This study provides the first evidence in humans for the importance of glycosylation on components of the IGF system.

Cited by 34 publications

References 27 publications

PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure

PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Cloning, molecular characterization and expression analysis of insulin-like growth factor binding protein-2 (IGFBP-2) cDNA in goldfish, Carassius auratus

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