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."
Polymers Based on Boron?
18.01.2018 | Julius-Maximilians-Universität Würzburg
Bioengineered soft microfibers improve T-cell production
18.01.2018 | Columbia University School of Engineering and Applied Science
What enables electrons to be transferred swiftly, for example during photosynthesis? An interdisciplinary team of researchers has worked out the details of how...
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...
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...
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...
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...
08.01.2018 | Event News
11.12.2017 | Event News
08.12.2017 | Event News
18.01.2018 | Life Sciences
18.01.2018 | Life Sciences
18.01.2018 | Earth Sciences