Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Mutations in a multifunctional protein cause parkinsonism


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:

More articles from Life Sciences:

nachricht Novel mechanisms of action discovered for the skin cancer medication Imiquimod
21.10.2016 | Technische Universität München

nachricht Second research flight into zero gravity
21.10.2016 | Universität Zürich

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

Im Focus: New Products - Highlights of COMPAMED 2016

COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.

In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...

Im Focus: Ultra-thin ferroelectric material for next-generation electronics

'Ferroelectric' materials can switch between different states of electrical polarization in response to an external electric field. This flexibility means they show promise for many applications, for example in electronic devices and computer memory. Current ferroelectric materials are highly valued for their thermal and chemical stability and rapid electro-mechanical responses, but creating a material that is scalable down to the tiny sizes needed for technologies like silicon-based semiconductors (Si-based CMOS) has proven challenging.

Now, Hiroshi Funakubo and co-workers at the Tokyo Institute of Technology, in collaboration with researchers across Japan, have conducted experiments to...

All Focus news of the innovation-report >>>



Event News

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

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Resolving the mystery of preeclampsia

21.10.2016 | Health and Medicine

Stanford researchers create new special-purpose computer that may someday save us billions

21.10.2016 | Information Technology

From ancient fossils to future cars

21.10.2016 | Materials Sciences

More VideoLinks >>>