Growth differentiation factor 5 (GDF5), a member of the BMP family, is highly expressed in the surface layer of articular cartilage. It plays a crucial role in joint development and homeostasis, and is involved in patterning appendicular skeletal elements including joints [2,5,6].

Gdf5 -deficient mice show abnormal joint development [2]. In aged mice, overexpressing GDF5 by AAV vector injection in tibialis anterior muscle promoted muscle weight increase, ameliorated the rate of force generation, and preserved neuromuscular junction morphology, suggesting its potential as a treatment for sarcopenia [1]. Mutations in GDF5 are associated with various skeletal dysplasia phenotypes in humans, such as brachydactyly and Grebe type chondrodysplasia, with homozygous mutations leading to more severe phenotypes [3,4].

In conclusion, GDF5 is essential for joint and skeletal development. Studies using gene-knockout models in mice and human mutation analysis have revealed its role in age-related neuromuscular failure and skeletal dysplasia, providing a basis for exploring its therapeutic potential in treating related diseases.