HOME >> MEDICINE >> NEWS
Mutations in a multifunctional protein cause parkinsonism

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
'"/>

Contact: Erik Kaldor
kaldor.erik@mayo.edu
904-953-2299
Mayo Clinic, Jacksonville
17-Nov-2004


Page: 1 2

Related medicine news :

1. Targeting mutant B-Raf protein reduces melanoma development
2. Mechanism of RNA recoding: New twists in brain protein production
3. Epstein-Barr virus protein crucial to its role in blood cancers
4. Neuronal death and processing of Tau protein in Alzheimers disease
5. CK2 protein sustains colon cancer cells by sabotaging ability to commit suicide
6. Brain synapse formation linked to proteins, Stanford study finds
7. Stat5 protein inhibits spread of breast cancer cells
8. UCSD-Salk team show proteins gene-silencing role in development of nervous system
9. Controversial drug shown to act on brain protein to cut alcohol use
10. New protein discovered by Hebrew University researchers
11. Reduced progression of atherosclerosis tied to statin drugs lowering fats, protein

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:5/27/2016)... ... 27, 2016 , ... Beleza Medspa has initiated a new program ... is the first time that Coolsculpting is being used for for more than just ... ensure they meet the prescribed body-fat standard, measured by the circumference-based tape method. ...
(Date:5/26/2016)... ... May 26, 2016 , ... Despite last week’s media reports hinting at ... company to wait until March 2017 for an interest rate increase, according to Rajeev ... of Business. , “The Federal Open Market Committee (FOMC) dot charts are of interest ...
(Date:5/26/2016)... ... 2016 , ... Georgia State University College of Law is ... Answering to the increasing demand for curricular specializations, the Certificate in Intellectual Property ... land use law. ,  , “The demand for lawyers with specific knowledge in ...
(Date:5/26/2016)... ... 2016 , ... There are nearly 14.5 million people living with and beyond ... Sunday, June 5, 2016, communities around the world will gather to recognize these cancer ... Cancer Survivors Day® is an annual worldwide Celebration of Life that is held on ...
(Date:5/26/2016)... ... ... effort to provide hair restoration information to the widest possible audience, Dr. Parsa Mohebi is ... the app. Dr. Mohebi, the founder of Parsa Mohebi Hair Restoration, is making all of ... Mohebi says, “The positive response to the Snapchat videos we started last month has been ...
Breaking Medicine News(10 mins):
(Date:5/25/2016)... FDA 510(k) clearance covers ... for urological and surgical applications Mauna ... Cellvizio®, the multidisciplinary confocal laser endomicroscopy (CLE) platform, ... US with the 12 th 510(k) clearance ... This new FDA clearance covers Confocal Miniprobes indicated ...
(Date:5/25/2016)... , Deutschland und GERMANTOWN, Maryland ... Zusammenarbeit mit Therawis bedient ... bei Brustkrebs   QIAGEN N.V. (NASDAQ: ... gab heute bekannt, eine Lizenz- und Entwicklungsvereinbarung mit ... Assays für die Onkologie eingegangen zu sein. Ein ...
(Date:5/25/2016)... IRVINE, Calif. , May 25, 2016 /PRNewswire/ ... of testing for their new reference materials that ... workflows from sample collection to analyses. The rapid ... the demand for researchers to have standard methods ... data being generated. Biases inherently exist at every ...
Breaking Medicine Technology:
Cached News: