Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genetic Risk Factor Identified for Parkinson’s Disease: Gene Variant Influences Vitamin B6 Metabolism

18.01.2010
An international team of doctors and human geneticists has identified a new genetic risk factor for Parkinson’s disease. The institutions involved in the study were the Institute of Human Genetics of Helmholtz Zentrum München and Technische Universität München, the Neurological Clinic of Ludwig-Maximilians-Universität Munich (LMU) and the Mitochondrial Research Group of Newcastle University, Newcastle upon Tyne, UK.

“Our study reveals the interaction of genetic and environmental factors such as dietary habits in the pathogenesis of Parkinson’s disease,” explained Dr. Matthias Elstner of the Neurological Clinic of LMU and Helmholtz Zentrum München, lead author of the study. In addition, this genome-wide expression and association study confirms that vitamin B6 status and metabolism significantly influence both disease risk and therapy response (Annals of Neurology, January, 2010).

Scientists of the two Munich universities and Helmholtz Zentrum München investigated neurons in the brain to determine which genes modify their activity in Parkinson’s disease. Among other findings, the research group detected increased activity of the pyridoxal kinase gene. In a subsequent international cooperation project, the researchers compared this gene in over 1,200 Parkinson patients with the genetic data of more than 2,800 healthy test subjects. In doing so, they discovered a gene variant which increases the risk for Parkinson’s disease and which may lead to a modified quantity or activity of the enzyme pyridoxal kinase (PDXK) in the brain. In combination with genetic association analysis, the innovative method used here – single cell expression profiling of dopaminergic neurons – opens up new possibilities for analyzing genetic risk factors.

PDXK converts Vitamin B6 from food sources into its physiologically active form, which is the prerequisite for the production of the neurotransmitter dopamine. Parkinson’s disease is linked to the accelerated aging and dying off of neurons that produce dopamine. The decreased synthesis of this neurotransmitter explains most of the disease symptoms: The gradual progression of the neurological disease is accompanied by muscle rigor and tremor and a slowing of movement (bradykinesia). Besides the constraints on daily life caused by these symptoms, the postural instability of the body can lead to dangerous falls. Moreover, in the course of the disease sensory symptoms like paresthesia, vegetative disorders (e.g. bladder dysfunction) and depression as well as other psychological changes can occur.

“Our study elucidates how genetic and environmental factors such as dietary habits interact in the pathogenesis of Parkinson’s disease,“ explained Dr. Matthias Elstner of the Neurological Clinic of LMU and Helmholtz Zentrum München, who is lead author of the study. Dr. Holger Prokisch, head of the research team studying mitochondrial diseases at Helmholtz Zentrum München and TU München, added: “Although this variant is responsible for only a slight contribution to the overall risk for Parkinson’s disease, our findings could aid in developing individualized therapies. “

Further information:
Publication:
“Single cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson’s disease gene”

Elstner et.al., Annals of Neurology, January 2010; DOI: 10.1002/ana.21780

Scientific questions:
Dr. Holger Prokisch
Institute of Human Genetics
Technical University Munich und Helmholtz Zentrum München
Tel: +49 89 3187 2890
E-Mail prokisch@helmholtz-muenchen.de
Press Contact:
Sven Winkler
Head, Communications Department
Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany
Phone: +49 (0) 89 3187 - 3946, Fax +49 (0) 89 3187 - 3324, e-mail: presse@helmholtz-muenchen.de

Helmholtz Zentrum München is the German Research Center for Environmental Health. As leading center oriented toward Environmental Health, it focuses on chronic and complex diseases which develop from the interaction of environmental factors and individual genetic disposition. Helmholtz Zentrum München has around 1700 staff members. The head office of the center is located in Neuherberg to the north of Munich on a 50-hectare research campus. Helmholtz Zentrum München belongs to the Helmholtz Association, Germany’s largest research organization, a community of 16 scientific-technical and medical-biological research centers with a total of 26,500 staff members.

Sven Winkler | EurekAlert!
Further information:
http://www.helmholtz-muenchen.de

More articles from Life Sciences:

nachricht Closing the carbon loop
08.12.2016 | University of Pittsburgh

nachricht Newly discovered bacteria-binding protein in the intestine
08.12.2016 | University of Gothenburg

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Significantly more productivity in USP lasers

In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.

Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...

Im Focus: Shape matters when light meets atom

Mapping the interaction of a single atom with a single photon may inform design of quantum devices

Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.

The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

Closing the carbon loop

08.12.2016 | Life Sciences

Applicability of dynamic facilitation theory to binary hard disk systems

08.12.2016 | Physics and Astronomy

Scientists track chemical and structural evolution of catalytic nanoparticles in 3-D

08.12.2016 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>