Association of Insulin-Like Growth Factor-1 Gene Polymorphisms with Different Types of Myopia in Egyptian Patients

Zidan, Haidy E.; Rezk, Noha A.; Fouda, Sameh Mosaad; Mattout, Hala K

doi:10.1089/gtmb.2015.0280

Cited by 14 publications

(10 citation statements)

References 18 publications

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“…Recent studies associated polymorphisms of the gene encoding insulin-like growth factor-1 (IGF-1) with high myopia in Egyptian25 and Chinese26 patients. Interestingly, megalin has been shown to bind to the IGF-1 receptor and suggested to mediate transcytosis of IGF-1 in the choroid plexus epithelium 27,28.…”

Section: Discussionmentioning

confidence: 99%

Selective Ablation of Megalin in the Retinal Pigment Epithelium Results in Megaophthalmos, Macromelanosome Formation and Severe Retina Degeneration

Storm

Burgoyne²,

Dunaief

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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PurposeMutations in the megalin-encoding gene, LRP2, cause high myopia as seen in patients suffering from Donnai-Barrow/facio-oculo-acoustico-renal syndrome. Megalin is present in both the nonpigmented epithelium of the ciliary body and in the RPE. In this study, we set out to establish an animal model to study the mechanisms underlying the ocular phenotype and to establish if high myopia/megaophthalmos is induced by postnatal megalin-deficiency in the RPE.MethodsPostnatal RPE-specific deletion of megalin was generated by crossing mice bearing a homozygous loxP-flanked Lrp2 allele with transgenic mice expressing the Cre recombinase driven by the BEST1 promotor. The model was investigated by immunohistologic techniques, and transmission electron microscopy.ResultsMice with postnatal RPE-specific loss of megalin developed a megaophthalmos phenotype with dramatic increase in ocular size and severe retinal thinning associated with compromised vision. This phenotype was present at postnatal day 14, indicating rapid development in the period from onset of BEST1 promotor activity at postnatal day 10. Additionally, RPE melanosomes exhibited abnormal size and morphology, suggested by electron tomography to be caused by fusion events between multiple melanosomes.ConclusionsPostnatal loss of megalin in the RPE induces dramatic and rapid ocular growth and retinal degeneration compatible with the high myopia observed in Donnai-Barrow patients. The morphologic changes of RPE melanosomes, believed to be largely inert and fully differentiated at birth, suggested a continued plasticity of mature melanosomes and a requirement for megalin to maintain their number and morphology.

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Section: Discussionmentioning

confidence: 99%

Selective Ablation of Megalin in the Retinal Pigment Epithelium Results in Megaophthalmos, Macromelanosome Formation and Severe Retina Degeneration

Storm

Burgoyne²,

Dunaief

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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“…Posterior eye growth was triggered in response to glucagon, oxyntomodulin, glucagon-like peptide-1, and miniglucagon [41] . In Egyptian patients, a significant association of the insulin-like growth factor-1 gene rs6214, polymorphism with simple myopia, and high-grade myopia was found [42] . Vasoactive intestinal peptide also plays a significant role in myopia [43–45] .…”

Section: Discussionmentioning

confidence: 99%

Retinal glial cells under hypoxia possibly function in mammalian myopia by responding to mechanical stimuli, affecting hormone metabolism and peptide secretion

Zhang

Wen

Jin

et al. 2020

Preprint

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PurposeChanges in the retina and the choroid blood vessels are regularly observed in myopia. The aim of this study is to test if the retinal glial cells, which directly contact blood vessels, play a role in mammalian myopia.MethodWe adapted the common form-deprivation myopia mouse model and used the retina slice and whole-mount immunofluorescence technique to evaluate changes in the morphology, and distribution of retinal glial cells. We then searched the Gene Expression Omnibus database for series on myopia and retinal glial cells (astrocytes and Müller cells). Using review articles and the National Center for Biotechnology Information gene database, we obtained clusters of myopia-related gene lists. By searching SwissTargetPrediction, we collected information on atropine target proteins. We then used online tools to find the Gene Ontology analysis enriched clusters, pathways, and proteins that provide correlative evidence.ResultGlial fibrillary acidic protein fluorescence was observed in mice eyes that were covered and deprived of light for five days compared to uncovered eyes, and the cell morphology became more star-like. From in silico experiments, we identified several pathways and proteins that were common to both myopia and retinal glial cells in hypoxic conditions. The common pathways in human astrocytes represented response to mechanical stimuli, peptide secretion, skeletal system development, and monosaccharide binding. In mouse Müller cells, the pathways represented membrane raft and extracellular structure organisation. The proteins common to myopia and hypoxic glial cells were highly relevant to atropine target proteins.ConclusionRetinal astrocytes and Müller cells under hypoxic conditions contribute to the development of myopia, and may be a valid target for atropine.

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“…The PCR produced bands of 191 and 32 bp for TT genotype, whereas TC genotype generated bands of 191, 116, 75, and 32 bp, and CC genotype produced 116-, 75-, and 32-bp fragments. The 32-bp fragment was not retained on the gel [17]. Measurement of level IGF-1 concentration was determined using a double antibody sandwich immunochemiluminescent assay (Immulite 1000, Tawada Healthcare).…”

Section: Methodsmentioning

confidence: 99%

IDENTIFICATION OF SNPs IGF-1 GENE IN VERTICAL MANDIBULAR ASYMMETRY PATIENTS WITH IDIOPATHIC SCOLIOSIS SYMPTOM

Sofyanti

Siregar

Siregar³

et al. 2018

Asian J Pharm Clin Res

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Association of Insulin-Like Growth Factor-1 Gene Polymorphisms with Different Types of Myopia in Egyptian Patients

Cited by 14 publications

References 18 publications

Selective Ablation of Megalin in the Retinal Pigment Epithelium Results in Megaophthalmos, Macromelanosome Formation and Severe Retina Degeneration

Selective Ablation of Megalin in the Retinal Pigment Epithelium Results in Megaophthalmos, Macromelanosome Formation and Severe Retina Degeneration

Retinal glial cells under hypoxia possibly function in mammalian myopia by responding to mechanical stimuli, affecting hormone metabolism and peptide secretion

IDENTIFICATION OF SNPs IGF-1 GENE IN VERTICAL MANDIBULAR ASYMMETRY PATIENTS WITH IDIOPATHIC SCOLIOSIS SYMPTOM

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