Featured Research

from universities, journals, and other organizations

Genetic risk factor identified for Parkinson's disease

Date:
January 17, 2010
Source:
Helmholtz Zentrum München - German Research Center for Environmental Health
Summary:
Doctors and human geneticists have identified a new genetic risk factor for Parkinson's disease.

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. "


Story Source:

The above story is based on materials provided by Helmholtz Zentrum München - German Research Center for Environmental Health. Note: Materials may be edited for content and length.


Journal Reference:

  1. Elstner et al. Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Annals of Neurology, 2009; 66 (6): 792 DOI: 10.1002/ana.21780

Cite This Page:

Helmholtz Zentrum München - German Research Center for Environmental Health. "Genetic risk factor identified for Parkinson's disease." ScienceDaily. ScienceDaily, 17 January 2010. <www.sciencedaily.com/releases/2010/01/100115182627.htm>.
Helmholtz Zentrum München - German Research Center for Environmental Health. (2010, January 17). Genetic risk factor identified for Parkinson's disease. ScienceDaily. Retrieved September 22, 2014 from www.sciencedaily.com/releases/2010/01/100115182627.htm
Helmholtz Zentrum München - German Research Center for Environmental Health. "Genetic risk factor identified for Parkinson's disease." ScienceDaily. www.sciencedaily.com/releases/2010/01/100115182627.htm (accessed September 22, 2014).

Share This



More Health & Medicine News

Monday, September 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Liberia Pleads for Help to Fight Ebola

Liberia Pleads for Help to Fight Ebola

AP (Sep. 22, 2014) — Liberia's finance minister is urging the international community to quickly follow through on pledges of cash to battle Ebola. Bodies are piling up in the capital Monrovia as the nation awaits more help. (Sept. 22) Video provided by AP
Powered by NewsLook.com
Ebola Doctor Says Border Controls Critical

Ebola Doctor Says Border Controls Critical

AP (Sep. 22, 2014) — A Florida doctor who helped fight the expanding Ebola outbreak in West Africa says the disease can be stopped, but only if nations quickly step up their response and make border control a priority. (Sept. 22) Video provided by AP
Powered by NewsLook.com
Global Ebola Aid Increasing But Critics Say It's Late

Global Ebola Aid Increasing But Critics Say It's Late

Newsy (Sep. 21, 2014) — More than 100 tons of medical supplies were sent to West Africa on Saturday, but aid workers say the global response is still sluggish. Video provided by Newsy
Powered by NewsLook.com
Sierra Leone in Lockdown to Control Ebola

Sierra Leone in Lockdown to Control Ebola

AP (Sep. 21, 2014) — Sierra Leone residents remained in lockdown on Saturday as part of a massive effort to confine millions of people to their homes in a bid to stem the biggest Ebola outbreak in history. (Sept. 20) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins