Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Movement disorders in young people related to ADHD

03.07.2014

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.

Genetic analysis based on one man

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.

Contact:

Ulrik Gether
Mobile: +45 28 75 75 48

Ulrik Gether | Eurek Alert!
Further information:
http://healthsciences.ku.dk/news/news2014/movement-disorders-in-young-people-related-to-adhd/

Further reports about: ADHD Copenhagen DAT Genetic Health Investigation Neuroscience diseases disorders dopamine movement mutations

More articles from Life Sciences:

nachricht New method opens crystal clear views of biomolecules
11.02.2016 | Deutsches Elektronen-Synchrotron DESY

nachricht Scientists from MIPT gain insights into 'forbidden' chemistry
11.02.2016 | Moscow Institute of Physics and Technology

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Production of an AIDS vaccine in algae

Today, plants and microorganisms are heavily used for the production of medicinal products. The production of biopharmaceuticals in plants, also referred to as “Molecular Pharming”, represents a continuously growing field of plant biotechnology. Preferred host organisms include yeast and crop plants, such as maize and potato – plants with high demands. With the help of a special algal strain, the research team of Prof. Ralph Bock at the Max Planck Institute of Molecular Plant Physiology in Potsdam strives to develop a more efficient and resource-saving system for the production of medicines and vaccines. They tested its practicality by synthesizing a component of a potential AIDS vaccine.

The use of plants and microorganisms to produce pharmaceuticals is nothing new. In 1982, bacteria were genetically modified to produce human insulin, a drug...

Im Focus: The most accurate optical single-ion clock worldwide

Atomic clock experts from the Physikalisch-Technische Bundesanstalt (PTB) are the first research group in the world to have built an optical single-ion clock which attains an accuracy which had only been predicted theoretically so far. Their optical ytterbium clock achieved a relative systematic measurement uncertainty of 3 E-18. The results have been published in the current issue of the scientific journal "Physical Review Letters".

Atomic clock experts from the Physikalisch-Technische Bundesanstalt (PTB) are the first research group in the world to have built an optical single-ion clock...

Im Focus: Goodbye ground control: autonomous nanosatellites

The University of Würzburg has two new space projects in the pipeline which are concerned with the observation of planets and autonomous fault correction aboard satellites. The German Federal Ministry of Economic Affairs and Energy funds the projects with around 1.6 million euros.

Detecting tornadoes that sweep across Mars. Discovering meteors that fall to Earth. Investigating strange lightning that flashes from Earth's atmosphere into...

Im Focus: Flow phenomena on solid surfaces: Physicists highlight key role played by boundary layer velocity

Physicists from Saarland University and the ESPCI in Paris have shown how liquids on solid surfaces can be made to slide over the surface a bit like a bobsleigh on ice. The key is to apply a coating at the boundary between the liquid and the surface that induces the liquid to slip. This results in an increase in the average flow velocity of the liquid and its throughput. This was demonstrated by studying the behaviour of droplets on surfaces with different coatings as they evolved into the equilibrium state. The results could prove useful in optimizing industrial processes, such as the extrusion of plastics.

The study has been published in the respected academic journal PNAS (Proceedings of the National Academy of Sciences of the United States of America).

Im Focus: New study: How stable is the West Antarctic Ice Sheet?

Exceeding critical temperature limits in the Southern Ocean may cause the collapse of ice sheets and a sharp rise in sea levels

A future warming of the Southern Ocean caused by rising greenhouse gas concentrations in the atmosphere may severely disrupt the stability of the West...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Travel grants available: Meet the world’s most proficient mathematicians and computer scientists

09.02.2016 | Event News

AKL’16: Experience Laser Technology Live in Europe´s Largest Laser Application Center!

02.02.2016 | Event News

From intelligent knee braces to anti-theft backpacks

26.01.2016 | Event News

 
Latest News

New method opens crystal clear views of biomolecules

11.02.2016 | Life Sciences

Scientists take nanoparticle snapshots

11.02.2016 | Physics and Astronomy

NASA sees development of Tropical Storm 11P in Southwestern Pacific

11.02.2016 | Earth Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>