Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Mutations in a multifunctional protein cause parkinsonism

18.11.2004


LRRK2 gene may play a central role in the pathogenesis of several neurodegenerative disorders



A team of researchers at Mayo Clinic in Jacksonville, Fla., and colleagues in Canada and Germany have discovered a gene and six mutations of it that cause symptoms associated with Parkinson’s disease and other neurodegenerative disorders. Their discovery will be reported in the Nov. 18 issue of the journal, Neuron. The team found a mutation of the gene, named LRRK2, in members of six families with many individuals affected by Parkinson’s disease. Surprisingly, brain autopsy on deceased, affected family members who participated in this research indicate mutations in the LRRK2 gene play a central role in developing pathology characteristic of Parkinson’s disease and other neurodegenerative disorders such as Alzheimer’s disease and amyotrophic lateral sclerosis (Lou Gehrig’s disease).

For 14 years Mayo Clinic neurologist Dr. Zbigniew Wszolek has studied the two largest families in which a LRRK2 mutation was found. "The discovery of this gene will have major implications for the understanding of mechanisms leading to the development of these neurodegenerative diseases," he says. "We also hope that continued study of this gene will lead to curative treatments for Parkinson’s disease and other similar conditions." Mayo Clinic neurologist Dr. Ryan Uitti has treated members of one of the six families with the gene mutation. "This finding is potentially a giant leap forward," he says. "Many people with Parkinson’s disease have dementia as well, and this may help to explain how that occurs."


The discovery is the culmination of research into the cause of autosomal dominant, late- onset Parkinson’s disease in the studied families. This team and others have previously narrowed a genetic cause for this form of inherited parkinsonism to a region of chromosome 12 called PARK8.

Mayo Clinic neuroscientist Matthew Farrer, Ph.D., and his team, continued to perform sophisticated genetic analyses on DNA collected from family members. Their work revealed the culprit gene and the multifunctional protein that it codes for.

Mayo Clinic neuropathologist Dr. Dennis Dickson performed brain tissue studies that revealed for the first time one gene was responsible for a range of pathology associated with a host of neurodegenerative disorders.

Dickson’s studies revealed sufferers uniformly exhibited pathology consistent with Parkinson’s disease. Some exhibited additional pathology associated with either diffuse Lewy body disease, Alzheimer’s disease or Lou Gehrig’s disease.

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

More articles from Life Sciences:

nachricht A Map of the Cell’s Power Station
18.08.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau

nachricht On the way to developing a new active ingredient against chronic infections
18.08.2017 | Deutsches Zentrum für Infektionsforschung

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Fizzy soda water could be key to clean manufacture of flat wonder material: Graphene

Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.

As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...

Im Focus: Exotic quantum states made from light: Physicists create optical “wells” for a super-photon

Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.

Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...

Im Focus: Circular RNA linked to brain function

For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.

While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...

Im Focus: RAVAN CubeSat measures Earth's outgoing energy

An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.

The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...

Im Focus: Scientists shine new light on the “other high temperature superconductor”

A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.

Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Call for Papers – ICNFT 2018, 5th International Conference on New Forming Technology

16.08.2017 | Event News

Sustainability is the business model of tomorrow

04.08.2017 | Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

 
Latest News

A Map of the Cell’s Power Station

18.08.2017 | Life Sciences

Engineering team images tiny quasicrystals as they form

18.08.2017 | Physics and Astronomy

Researchers printed graphene-like materials with inkjet

18.08.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>