Until this day only a few genes have been associated with a combination of chorea and dystonia, but recently the expertise centre of hyperkinetic movements within the UMCG discovered a novel gene linked with hyperkinetic (choreatic and dystonic) movements: the DRD2 gene. These findings have important implications for our understanding of the underlying biological mechanisms of hyperkinetic movements and its inheritance pattern within families. The investigations revealed that “mutations” alterations in the DRD2 gene causing hyperkinetic movements are relatively rare.
Further research regarding the consequences of the mutations in the DRD2 gene was conducted through a collaboration between the UMCG, Oregon Health & Science University in Oregon, United States and the Universitätsklinikum Tuebingen from Tuebingen, Germany. These results showed that the mutation leads to an aberrant function of the DRD2 gene in nerve cells. The DRD2 gene translates into the dopamine receptor which is important for the communication between nerve cells. Carriers of the mutation in the DRD2 gene have a continuously active receptor, likely causing the hyperkinetic movements. This discovery provides potential new treatment strategies for patients with choreatic and dystonic movements.
The full paper can be found here