GENETIC KEY TO PARKINSON'S DISEASE
Researchers at the University of Copenhagen and the Copenhagen University Hospital have identified a particular genetic mutation that may cause parkinsonism in young people. The mutation interferes with the brain's transport of the important signal substance dopamine and may also plays a role in mental diseases, e.g. ADHD. The findings have just been published in the scientific Journal of Clinical Investigation.
The researchers believe that 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.
Being one of the most important signal substances in the brain, dopamine is particularly important for the control of movements and reward mechanisms in the brain. In the new study, Danish researchers have focused on a special protein, the dopamine transporter (DAT). DAT 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 – 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.
The researchers believe that 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:
"Children born without a functional dopamine transporter develop serious movement disorders from birth, which may result in premature death. We have now identified mutations in the DAT-encoding gene as a novel cause of parkinsonism in adult patients and possibly also to complex mental disorders," says Freja H. Hansen, postdoc at the Department of Neuroscience and Pharmacology.
The scientific article, which has just been published in Journal of Clinical Investigation, is based on one patient only. Neurologists and psychiatrists have examined the male patient, who is 45 years old and has suffered from serious movement disorders since he was in his 20s. Furthermore, he has had various mental problems since childhood. When he was 36 years old, he was diagnosed with ADHD:
"It was a great relief for the patient and his family to get a genetic explanation of a disease that has affected him since childhood," says Freja H. Hansen.
But can the results be used in a wider perspective?
"We will, among other things, create a mouse model with the same genetic deficiencies, and we expect it to become a new disease model for parkinsonism and mental disorders. We hope that this will help us find new and better ways of treating these diseases," says Ulrik Gether.
"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," concludes Freja H. Hansen.
In this specific research project, the researchers at the University of Copenhagen have worked closely with the geneticists Tina Skjørringe and Lisbeth B. Møller from the Kennedy Centre at the Copenhagen University Hospital as well as with neurologist Lena E. Hjermind from the Department of Neurology also at the Copenhagen University Hospital.
Mobile: +45 28 75 75 48
Ulrik Gether | Eurek Alert!
Magic number colloidal clusters
13.12.2018 | Friedrich-Alexander-Universität Erlangen-Nürnberg
Record levels of mercury released by thawing permafrost in Canadian Arctic
13.12.2018 | University of Alberta
What if, instead of turning up the thermostat, you could warm up with high-tech, flexible patches sewn into your clothes - while significantly reducing your...
A widely used diabetes medication combined with an antihypertensive drug specifically inhibits tumor growth – this was discovered by researchers from the University of Basel’s Biozentrum two years ago. In a follow-up study, recently published in “Cell Reports”, the scientists report that this drug cocktail induces cancer cell death by switching off their energy supply.
The widely used anti-diabetes drug metformin not only reduces blood sugar but also has an anti-cancer effect. However, the metformin dose commonly used in the...
A research team from the University of Zurich has developed a new drone that can retract its propeller arms in flight and make itself small to fit through narrow gaps and holes. This is particularly useful when searching for victims of natural disasters.
Inspecting a damaged building after an earthquake or during a fire is exactly the kind of job that human rescuers would like drones to do for them. A flying...
Over the last decade, there has been much excitement about the discovery, recognised by the Nobel Prize in Physics only two years ago, that there are two types...
What if a sensor sensing a thing could be part of the thing itself? Rice University engineers believe they have a two-dimensional solution to do just that.
Rice engineers led by materials scientists Pulickel Ajayan and Jun Lou have developed a method to make atom-flat sensors that seamlessly integrate with devices...
12.12.2018 | Event News
10.12.2018 | Event News
06.12.2018 | Event News
13.12.2018 | Life Sciences
13.12.2018 | Physics and Astronomy
13.12.2018 | Earth Sciences