Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

LRRK2 gene mutation causes Parkinson’s disease in several families

28.02.2005


Neuroscientists at Mayo Clinic in Jacksonville, Fla., leading a team of researchers in the United States and Europe, have discovered that a novel mutation in the recently identified LRRK2 gene causes parkinsonism in several North American and European families. Their findings will be reported in the April edition of the American Journal of Human Genetics. The disease-causing G2019S mutation in the LRRK2 gene is the first time a genetic cause has been associated with typical, late-onset Parkinson’s disease.



The researchers found the mutation by DNA sequencing of the LRRK2 gene in families with parkinsonism. These families came from the United States, Norway, Ireland and Poland. Family members of the patients with the G2019S mutation were subsequently screened, and 22 of 42 were found to carry the same mutation. Seven of them were already diagnosed with Parkinson’s disease. The mutation was absent in more than 2,000 healthy control individuals. Subsequent screening identified several patients with sporadic Parkinson’s disease (i.e., no family history) who were positive for this mutation. Interestingly, all G2019S patients shared a genetic pattern indicating a common, although ancient, ancestor.

Parkinsonism is a syndrome characterized by resting tremor, rigidity, slow movement and postural instability. The most common form of Parkinson’s disease, which manifests late in life, was thought to be sporadic. However, these findings indicate a genetic component of the disease. "It’s a small number of cases," says Mayo Clinic neuroscientist Matthew Farrer (new window), Ph.D., whose lab sequenced the gene, "but it will be insightful for creating models of Parkinson’s and extrapolating from that to the disease in general."


Age of onset of clinical symptoms of the disease varied, even within the same family. Within one family alone, age of symptom onset ranged from 39 to 78 years. In addition, the older the patient, the more likely he or she exhibited symptoms.

"From a research point of view, this is the first time we could identify what appears to be typical Parkinson’s disease cases before people develop symptoms," Farrer says. "We know if someone inherits the mutation they are going to get Parkinson’s disease."

Farrer and his colleagues are beginning to explore the cellular role of the LRRK2 protein and the reason it causes disease when the mutant gene is present. "It’s an exciting time in the study of the genetics of Parkinson’s disease," (new window) says Farrer. "There are already clinical trials of mixed-lineage kinase inhibitors that may be targeted at this form of the disorder. Our objectives are to understand the molecular events that cause Parkinson’s disease and to target therapeutics to halt its progression."

Erik Kaldor | EurekAlert!
Further information:
http://www.MayoClinic.org/news
http://www.mayo.edu

More articles from Life Sciences:

nachricht Polymers Based on Boron?
18.01.2018 | Julius-Maximilians-Universität Würzburg

nachricht Bioengineered soft microfibers improve T-cell production
18.01.2018 | Columbia University School of Engineering and Applied Science

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Scientists decipher key principle behind reaction of metalloenzymes

So-called pre-distorted states accelerate photochemical reactions too

What enables electrons to be transferred swiftly, for example during photosynthesis? An interdisciplinary team of researchers has worked out the details of how...

Im Focus: The first precise measurement of a single molecule's effective charge

For the first time, scientists have precisely measured the effective electrical charge of a single molecule in solution. This fundamental insight of an SNSF Professor could also pave the way for future medical diagnostics.

Electrical charge is one of the key properties that allows molecules to interact. Life itself depends on this phenomenon: many biological processes involve...

Im Focus: Paradigm shift in Paris: Encouraging an holistic view of laser machining

At the JEC World Composite Show in Paris in March 2018, the Fraunhofer Institute for Laser Technology ILT will be focusing on the latest trends and innovations in laser machining of composites. Among other things, researchers at the booth shared with the Aachen Center for Integrative Lightweight Production (AZL) will demonstrate how lasers can be used for joining, structuring, cutting and drilling composite materials.

No other industry has attracted as much public attention to composite materials as the automotive industry, which along with the aerospace industry is a driver...

Im Focus: Room-temperature multiferroic thin films and their properties

Scientists at Tokyo Institute of Technology (Tokyo Tech) and Tohoku University have developed high-quality GFO epitaxial films and systematically investigated their ferroelectric and ferromagnetic properties. They also demonstrated the room-temperature magnetocapacitance effects of these GFO thin films.

Multiferroic materials show magnetically driven ferroelectricity. They are attracting increasing attention because of their fascinating properties such as...

Im Focus: A thermometer for the oceans

Measurement of noble gases in Antarctic ice cores

The oceans are the largest global heat reservoir. As a result of man-made global warming, the temperature in the global climate system increases; around 90% of...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

10th International Symposium: “Advanced Battery Power – Kraftwerk Batterie” Münster, 10-11 April 2018

08.01.2018 | Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

 
Latest News

Polymers Based on Boron?

18.01.2018 | Life Sciences

Bioengineered soft microfibers improve T-cell production

18.01.2018 | Life Sciences

World’s oldest known oxygen oasis discovered

18.01.2018 | Earth Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>