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CCBE1 in Cardiac Development and Disease. | LitMetric

CCBE1 in Cardiac Development and Disease.

Front Genet

Stem Cells and Development Laboratory, CEDOC, Chronic Diseases Research Centre, NOVA Medical School, Universidade Nova de Lisboa, Lisboa, Portugal.

Published: February 2022

AI Article Synopsis

Article Abstract

The collagen- and calcium-binding EGF-like domains 1 (CCBE1) is a secreted protein extensively described as indispensable for lymphangiogenesis during development enhancing VEGF-C signaling. In human patients, mutations in have been found to cause Hennekam syndrome, an inherited disease characterized by malformation of the lymphatic system that presents a wide variety of symptoms such as primary lymphedema, lymphangiectasia, and heart defects. Importantly, over the last decade, an essential role for CCBE1 during heart development is being uncovered. In mice, expression was initially detected in distinct cardiac progenitors such as first and second heart field, and the proepicardium. More recently, expression was identified in the epicardium and sinus venosus (SV) myocardium at E11.5-E13.5, the stage when SV endocardium-derived (VEGF-C dependent) coronary vessels start to form. Concordantly, CCBE1 is required for the correct formation of the coronary vessels and the coronary artery stem in the mouse. Additionally, was found to be enriched in mouse embryonic stem cells (ESC) and revealed as a new essential gene for the differentiation of ESC-derived early cardiac precursor cell lineages. Here, we bring an up-to-date review on the role of CCBE1 in cardiac development, function, and human disease implications. Finally, we envisage the potential of this molecule's functions from a regenerative medicine perspective, particularly novel therapeutic strategies for heart disease.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8864227PMC
http://dx.doi.org/10.3389/fgene.2022.836694DOI Listing

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