This article has been reviewed according to Science X's editorial process and policies. Editors have highlighted the following attributes while ensuring the content's credibility:

fact-checked

proofread

Defective EMC1 protein may contribute to a severe ocular disorder, familial exudative vitreoretinopathy

Defective EMC1 protein may contribute to a severe ocular disorder, familial exudative vitreoretinopathy (FEVR)
Loss of Emc1 in mouse endothelial cells results in retinal vascular defects. (A) Representative overview (top panels) and high-magnification images (bottom panels) of P7 control (Ctrl) and Emc1iECKO/iECKO mouse retinae stained with Isolectin B4 (IB4). The circles indicate vessel outgrowth of Ctrl retinae. Scale bars, 500 μm and 100 μm. (B, C) Quantification of vascular progression (B) and vascular density (C) of P7 control (Ctrl) and Emc1iECKO/iECKO mouse retinae. Error bars, standard deviations (SDs). Student's t-test (n ≥ 7), ∗∗∗P < 0.001, ∗∗∗∗P < 0.0001. (D) Representative immunofluorescence images of P6 Ctrl and Emc1iECKO/iECKO mouse retinae stained with IB4. Red dots indicate sprouts at the angiogenic front. Scale bars, 50 μm. (E) Quantification of the numbers of sprouts per unit of front length (mm). Error bars, SDs. Student's t-test (n = 5), ∗∗P < 0.01. (F) Representative immunofluorescence image of superficial and deep IB4-staining retinae of P9 Ctrl and Emc1iECKO/iECKO mice. Scale bars, 50 μm. (G) Representative overview and high-magnification images of P6 Ctrl and Emc1iECKO/iECKO mouse retinae co-stained with IB4, EdU, and ERG. Dotted boxes indicate magnified areas. Scale bars, 20 μm and 200 μm. (H) Quantification of the percentage of EdU+/ERG + cells to total ERG + cells per field. Error bars, SDs. Student's t-test (n = 9), ∗∗∗∗P < 0.0001. (I) Representative immunofluorescence images of P6 Ctrl and Emc1iECKO/iECKO mouse retinae co-stained with IB4 and Ter119. White arrows indicate leakage of erythrocytes. Scale bars, 200 μm. Credit: Genes & Diseases (2022). DOI: 10.1016/j.gendis.2022.10.003

In a recent study published in the journal Genes & Diseases, researchers from University of Electronic Science and Technology of China have uncovered a key relationship between the EMC1 protein and retinal vascular development. Mutations in the EMC1 gene appear to be associated with familial exudative vitreoretinopathy (FEVR), a severe ocular condition. The discovery offers potential new therapeutic avenues for treating this disorder and other related vascular defects.

Scientists have discovered that the depletion of Emc1 in in mice causes significant defects in retinal vessel development, including reduced vascular growth and retinal bleeding. This impairment is intricately linked with the Wnt signaling , a critical regulator for , whose is altered when EMC1 is compromised.

This observation prompted researchers to examine the EMC1 gene in patients with FEVR, leading to the identification of a genetic variant in two related patients, suggesting a potential genetic connection. Notably, treating EMC1-depleted cells with LiCl, an activator of the Wnt signaling pathway, mitigated some of the adverse effects, hinting at potential therapeutic avenues for conditions associated with EMC1 dysfunction.

The EMC1 protein has emerged as a pivotal factor in retinal blood vessel development, operating primarily via the Wnt signaling pathway. Variants in the EMC1 gene found in FEVR patients can disrupt this vital process, shedding light on potential causes and treatment avenues for the condition.

This discovery enhances our understanding of FEVR's origins and broadens the horizon for targeted therapeutic interventions. By focusing on the Wnt signaling pathway, researchers hope to develop treatments that could alleviate or even reverse the vascular defects associated with compromised EMC1 function.

More information: Shujin Li et al, Defective EMC1 drives abnormal retinal angiogenesis via Wnt/β-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy, Genes & Diseases (2022). DOI: 10.1016/j.gendis.2022.10.003

Provided by TranSpread
Citation: Defective EMC1 protein may contribute to a severe ocular disorder, familial exudative vitreoretinopathy (2023, October 9) retrieved 1 March 2024 from https://medicalxpress.com/news/2023-10-defective-emc1-protein-contribute-severe.html
This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.

Explore further

Restoring the blood-brain barrier using a novel WNT signaling pathway

1 shares

Feedback to editors