Auriculo 3d Code
EDN1 (NP_001024677.1) encodes endothelin-1 (EDN1). EDN1 is a member of the family of 21-amino-acid peptides that includes the endothelins (ETs), ET-1, ET-2 and ET-3. Endothelin-1 is a potent vasoconstrictor peptide. The endothelins are produced by a family of cells called endothelial cells and several tissues in the human body. Their main physiological effect is on blood vessels and the heart, and they regulate cellular functions such as proliferation, apoptosis, survival and differentiation [ 12, 13, 14, 15 ]. Altered expression of ET-1 is associated with vasoconstriction and hypertension. The pathogenic variant (p.Gly255Ser) is reported to induce the production of ET-1, and it is suggested that the mutant protein is a gain-of-function mutation [ 2 ].
GNAI3, PLCB4 and EDN1 are the three genes that have pathogenic variants known to cause ARCND. These genes are good candidate loci for ARCND, even though genetic test results have not yet been obtained for more than one third of patients. In addition, no case with a homozygous deletion was reported, so it cannot be ruled out that ARCND is associated with polymorphisms of the genes mentioned above [ 10, 2, 6 ]. The AcuGraph device does not take a biopsy, making genetic screening difficult. However, the device has not yet been tested for diagnostic accuracy. The rights to the gene sequence will belong to the individual user, which means that a genetic test for ARCND (using an approved assay) could be developed with the assistance of Auriculo 3d Co.
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