Danish researchers have identified a particular genetic mutation that may cause ADHD and Parkinsonism in young people.
In the a study, scientists at the University of Copenhagen and the Copenhagen University Hospital have looked closer at a special protein, the dopamine transporter (DAT). It is a transport protein, which controls the effect of dopamine by mediating re-uptake of released dopamine from the synaptic cleft to the nerve cell. This is a very fine balance however and even small fluctuations can have major consequences for brain function.
“We can now for the first time document that mutations in the DAT-encoding gene can cause parkinsonism in young people. Furthermore, our studies show that the gene mutation is likely to contribute to the development of ADHD,” explains Ulrik Gether, Professor at the Department of Neuroscience and Pharmacology, University of Copenhagen.
According to the researchers, DAT mutations may cause or predispose to the development of an entire spectrum of brain diseases – from relatively mild psychiatric diagnoses such as ADHD to serious movement disorders in infants such as Dopamine Transporter Deficiency Syndrome. The results could possibly be used in a wider perspective. The researchers aim among other things to create a mouse model with the same genetic deficiencies which could become a new disease model for parkinsonism and mental disorder. The hope is to find new and better ways of treating these diseases.
“We would like to examine the frequency of mutations in the DAT-encoding gene in both children and young adults with serious movement disorders. This knowledge can clarify whether the DAT gene can be used in the genetic investigation of patients. Genetic examinations of embryos may also be relevant for some families,” says Freja H. Hansen, postdoc at the Department of Neuroscience and Pharmacology.