6. The Genetic Blueprint: Understanding EDS Mutations
Diving into the world of genetics is like opening a door to endless corridors of human biology. In the context of EDS, our genetic blueprint plays a pivotal role in determining the type, severity, and prognosis. EDS arises from mutations in genes responsible for collagen synthesis and structure. But what does this mean?
Collagen is the body’s primary structural protein, providing strength and flexibility to connective tissues. When there’s a glitch in this system – a genetic mutation – EDS is the result. These mutations are predominantly inherited, passed down through generations. Interestingly, not all mutations lead to the same type of EDS. Different gene mutations are linked with different types, adding layers of complexity to the diagnosis and prognosis. (6)
