GDF2
GDF2: A Key Bone Growth Gene with Potential Therapeutic Applications
Description
Growth differentiation factor 2 (GDF2) is a protein that plays a crucial role in skeletal development and homeostasis. It belongs to the transforming growth factor beta (TGF-beta) superfamily and is expressed in various tissues, including bones, cartilage, and joints. GDF2 regulates cell growth, differentiation, and migration, particularly in the context of bone formation.
Associated Diseases
Mutations in the GDF2 gene have been linked to several skeletal disorders, including:
- Multiple Epiphyseal Dysplasia (MED): A condition characterized by abnormal development of the growth plates at the ends of long bones, leading to short stature, limb deformities, and early-onset osteoarthritis.
- Achondroplasia: The most common form of dwarfism, caused by a specific mutation in the GDF2 gene that disrupts normal bone growth.
- Brachydactyly Type C: A condition characterized by shortened fingers and toes.
- Cleft Lip and Palate: A birth defect that can be associated with GDF2 mutations.
Did you Know ?
GDF2 is essential for normal bone development, and its deficiency can have severe consequences. Studies have shown that individuals with achondroplasia, caused by a specific mutation in the GDF2 gene, have a significantly reduced life expectancy compared to the general population. This highlights the critical role of GDF2 in skeletal health and overall well-being.
