Funding outcome

Arthrogryposis is a disease that occurs in 1 in 3000 infants. It is characterized by a permanent shortening of the muscles and joints. resulting in an inability of the joints to rotate. This can dramatically lower the quality of life of affected children. Arthrogryposis can be caused by maternal viral infections, abnormal changes to the amniotic fluid, and mutations that are inherited genetically. These mutations can cause changes in the shape and function of proteins involved with joint formation, therefore causing an increase or decrease in protein activity. If a protein becomes too active, it could become toxic to the cell, which may cause more problems than having none of this protein at all. MAGEL2 is a gene that, when mutated in a specific way, produces a protein that exerts a toxic effect on developing joints, bones, and muscles. By studying how this toxic MAGEL2 protein interacts with other proteins in the cell, we can better understand how it causes the shortening of muscles and tendons during embryonic development, thereby leading to arthrogryposis. This understanding could potentially be used to produce therapies for arthrogryposis that specifically target MAGEL2 or other proteins that it interacts with, therefore increasing the quality of life of infants affected by arthrogryposis.