ADAMTSL5
ADAMTSL5: A Crucial Enzyme in Tissue Development and Disease
Description
ADAMTS-like 5 (ADAMTSL5) is a member of the ADAMTS family of metalloproteases, enzymes that play vital roles in extracellular matrix (ECM) remodeling. ADAMTSL5 is a secreted glycoprotein that predominantly functions in the ECM of cartilage and tendon. It regulates the proteolytic cleavage of proteoglycans, large molecules that provide structure and hydration to these tissues.
Associated Diseases
Disruptions in ADAMTSL5 synthesis or activity are linked to several connective tissue disorders:
- Cartilage Oligomeric Matrix Protein (COMP) Deficiency: Mutations in ADAMTSL5 lead to a deficiency of COMP, an essential protein for cartilage development. This results in abnormal cartilage formation, leading to skeletal malformations, joint pain, and early-onset osteoarthritis.
- Stickler Syndrome: A group of genetic disorders caused by mutations in collagen genes or COL11A1, which encodes ADAMTSL5. Patients with Stickler syndrome exhibit joint hypermobility, myopia, vitreous degeneration, and hearing loss.
- Osteoarthritis: Alterations in ADAMTSL5 expression or activity have been implicated in osteoarthritis, a degenerative joint disease characterized by cartilage breakdown.
- Periodontal Disease: ADAMTSL5 is involved in the regulation of periodontal ligament homeostasis. Its deficiency can contribute to periodontal inflammation and tissue destruction.
Did you Know ?
Studies suggest that mutations in ADAMTSL5 are responsible for approximately 20-25% of cases of Stickler syndrome.
