ADAMTS2 : ADAM metallopeptidase with thrombospondin type 1 motif 2
The ADAMTS2 Gene: A Vital Player in Collagen Production
Description
The ADAMTS2 gene holds the blueprint for creating an enzyme crucial for collagen production. Collagen, the body‘s ubiquitous building block, is an intricate molecule responsible for providing strength, support, and elasticity to various tissues. ADAMTS2 plays a significant role in collagen formation by initiating a specific cutting process.
Mechanism of Action
ADAMTS2 targets procollagens, the precursor molecules of collagen, and snips off a short chain of amino acids at one end. This precise trimming is essential for the proper assembly of collagen molecules into sturdy and flexible fibrils. These fibrils provide the structural integrity required for tissues to withstand mechanical stresses and maintain their shape.
Associated Diseases
Genetic variations in the ADAMTS2 gene can disrupt its normal function and lead to health conditions associated with collagen abnormalities:
- Ehlers-Danlos Syndrome (EDS): A group of rare inherited disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
- Osteoarthritis (OA): A degenerative joint disease where weakened collagen in the cartilage leads to joint pain and stiffness.
- Emphysema: A chronic lung disease where abnormal collagen breakdown contributes to the destruction of air sacs (alveoli).
Did you Know ?
Research suggests that approximately 1 in 50,000 individuals worldwide is affected by Ehlers-Danlos Syndrome, highlighting the prevalence of genetic conditions linked to ADAMTS2.
