ADAMTS7
A Comprehensive Guide to ADAMTS7: Description, Associated Diseases, and Latest Research
Description
ADAMTS7 (a disintegrin and metalloproteinase with thrombospondin motifs, 7) is a human gene that encodes a secreted glycoprotein belonging to the ADAMTS protein family. This family of proteins is known for its involvement in extracellular matrix (ECM) remodeling and regulation of cell signaling.
ADAMTS7 specifically plays a crucial role in the degradation of cartilage ECM components, particularly aggrecan, a major proteoglycan that provides structural support to cartilage tissue. By breaking down aggrecan, ADAMTS7 facilitates the remodeling and turnover of cartilage, ensuring its proper maintenance and integrity.
Associated Diseases
Mutations in the ADAMTS7 gene have been linked to a range of connective tissue disorders, including:
- Osteoarthritis (OA): OA is a degenerative joint disease characterized by cartilage breakdown and joint pain. Studies have shown that ADAMTS7 plays a role in cartilage degradation in OA, particularly in the early stages of the disease.
- Arthritis: ADAMTS7 is also implicated in other forms of arthritis, such as rheumatoid arthritis and juvenile idiopathic arthritis (JIA). In these conditions, ADAMTS7 contributes to joint inflammation and cartilage destruction.
- Ehlers-Danlos Syndrome (EDS): EDS is a group of inherited disorders that affect the connective tissues of the body, resulting in skin hyperextensibility, joint instability, and other symptoms. Mutations in ADAMTS7 have been linked to a subtype of EDS known as classical-like EDS.
Did you Know ?
Research suggests that polymorphisms in the ADAMTS7 gene may contribute to an increased risk of developing osteoarthritis. One study found that individuals with a specific ADAMTS7 variant had a 2.4-fold increased risk of developing knee OA compared to those without the variant.
