TGFB3

At least 11 mutations in the TGFB3 gene have been found to cause Loeys-Dietz syndrome type V. This disorder affects connective tissue, which gives structure and support to blood vessels, the skeleton, and many other parts of the body. Loeys-Dietz syndrome type V is characterized by blood vessel abnormalities, heart defects, and skeletal deformities. The TGFB3 gene mutations that cause this condition lead to the production of a TGFβ-3 protein with little or no function. As a result, the protein cannot bind to its receptors. Although the TGFβ-3 protein and its receptors are not bound, TGF-β pathway signaling occurs at an even greater intensity than normal. Researchers speculate that the activity of other proteins in this signaling pathway is increased to compensate for the reduction in TGFβ-3 activity; however, the exact mechanism responsible for the increase in signaling is unclear. The overactive signaling pathway disrupts development of connective tissue and various body systems and leads to the signs and symptoms of Loeys-Dietz syndrome type V.

MedlinePlus Genetics provides information about Arrhythmogenic right ventricular cardiomyopathy