Molecular Bases of EDS ... (2)

As we already know that mutations in COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ADAMTS2, PLOD1 and TNXB gene cause Ehlers-Danlos syndrome — some of these genes (COL1A1, COL1A2, COL3A1, COL5A1 & COL5A2) provide instructions for making proteins that are used to assemble different types of collagen. ADAMTS2, PLOD1 & TNXB provide instructions for making proteins that process or interact with collagen. Now ‘Collagens’ are molecules that give structure and strength to connective tissues throughout the body.

Mutations that cause the different forms of Ehlers-Danlos syndrome disrupt the structure, production, or processing of collagen, preventing these molecules from being assembled properly. These defects weaken connective tissues in the skin, bones and other parts of the body causing EDS.