Navigation Links
Mayo researchers: Genetic mutation linked to Parkinson's disease
Date:7/15/2011

JACKSONVILLE, Fla. Researchers have discovered a new gene mutation they say causes Parkinson's disease. The mutation was identified in a large Swiss family with Parkinson's disease, using advanced DNA sequencing technology.

The study, published today in the American Journal of Human Genetics, was led by neuroscientists at the Mayo Clinic campus in Florida and included collaborators from the U.S., Canada, Europe, United Kingdom, Asia and the Middle East.

"This finding provides an exciting new direction for Parkinson's disease research," says co-author Zbigniew Wszolek, M.D., a Mayo Clinic neuroscientist. "Every new gene we discover for Parkinson's disease opens up new ways to understand this complex disease, as well as potential ways of clinically managing it."

The team found that mutations in VPS35, a protein responsible for recycling other proteins within cells, caused Parkinson's disease in the Swiss family. Mutated VPS35 may impair the ability of a cell to recycle proteins as needed, which could lead to the kind of errant buildup of protein seen in some Parkinson's disease brains and in other diseases like Alzheimer's disease says co-author Owen Ross, Ph.D., a neuroscientist at Mayo Clinic in Florida. "In fact, expression of this gene has been shown to be reduced in Alzheimer's disease, and faulty recycling of proteins within cells has been linked to other neurodegenerative diseases," he says.

So far, mutations in six genes have been linked to familial forms of Parkinson's disease, with many mutations identified as a direct result of Mayo Clinic's collaborative research efforts. Dr. Wszolek has built a worldwide network of Parkinson's disease investigators, many of whom have conducted research at Mayo Clinic. The study's first author, Carles Vilario-Gell, Ph.D., and the senior investigator, Matthew Farrer, Ph.D., worked on this study while at Mayo Clinic in 2010; they have since moved to the University of British Columbia in Vancouver. The joint first author, neurologist Christian Wilder, M.D., first identified the Swiss Parkinson's disease family and continued to study them while he was a research fellow at Mayo Clinic; he has now returned to Centre Hospitalier Universitaire Vaudois in Lausanne, Switzerland.

Investigators used a new genetic sequencing technique to find the VPS35 mutation, according to Dr. Ross. They used 'exome' sequencing to look for shared variations in a pair of first cousins within a large Swiss family affected by Parkinson's disease. Collectively, exons, which provide the genetic blueprint used in the production of proteins, make up only 1 percent of the entire genome and so it is much easier to look for novel variations, causing changes in the protein sequence, that would represent possible disease-causing mutations, he says. "Cousins only share about 10 percent of their genome, whereas parents and children or siblings share much more. This narrowed the field of novel variations for us," says Dr. Wszolek, with VPS35 emerging as the latest Parkinson's disease gene.

"There is much more we need to know about this gene," Dr. Ross says. "Although it appears to be a rare cause of Parkinson's disease, it seems to be very important from a mechanistic viewpoint for this disease and possibly other neurodegenerative disorders."


'/>"/>

Contact: Kevin Punsky
punsky.kevin@mayo.edu
904-953-2299
Mayo Clinic
Source:Eurekalert

Related medicine news :

1. Wistar researchers: Direct proof of how T cells stay in standby mode
2. Researchers: Sexually active teens need confidential health care
3. Researchers: Elderly patients 4 times more likely to die from treatment complications
4. Researchers: Pay more attention to epilepsy
5. Ben-Gurion U. researchers: High resistance rates among acute otitis media pathogens in children
6. IU researchers: Chemotherapy alters brain tissue in breast cancer patients
7. Epigenetic pathway and new drug show promise in reversing a hard-to-treat childhood cancer
8. Genetic study sheds new light on auto-immune arthritis
9. UCSF team describes genetic basis of rare human diseases
10. Wayne State University researcher argues that sex reduces genetic variation
11. Study uncovers novel genetic variation linked to increased risk of sudden cardiac arrest
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/24/2016)... PASADENA, CA (PRWEB) , ... June 24, 2016 , ... Marcy was in a crisis. ... he would lash out at his family verbally and physically. , “When something upset him, ... table, he would use it. He would throw rocks at my other children and say ...
(Date:6/24/2016)... , ... June 24, 2016 , ... ... offering micro-osteoperforation for accelerated orthodontic treatment. Dr. Cheng has extensive experience with all ... brackets , AcceleDent, and accelerated osteogenic orthodontics. , Micro-osteoperforation is a revolutionary ...
(Date:6/24/2016)... ... June 24, 2016 , ... People across the U.S. ... magazine’s Code Talker Award, an essay contest in which patients and their families pay ... be presented at the 2016 National Society of Genetic Counselors (NSGC) Annual Education Conference ...
(Date:6/24/2016)... , ... June 24, 2016 , ... ... The Grove Investment Group (TGIG), has initiated cultivation and processing operations at its ... Vegas and Pahrump, Nevada. , Puradigm is the manufacturer of a complete system ...
(Date:6/24/2016)... ... 24, 2016 , ... Venture Construction Group (VCG) sponsors Luke’s Wings ... 20th at the Woodmont Country Club at 1201 Rockville Pike, Rockville, Maryland, 20852. ... service members that have been wounded in battle and their families. Venture Construction Group ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... -- Dublin ... the " Global Markets for Spectroscopy Equipment" ... This report focuses on the global market ... its applications in various applications. The report deals with ... main industries: pharmaceutical and biotechnology, food and beverage, and ...
(Date:6/24/2016)... CLEMENTE, Calif. , June 24, 2016  American Respiratory Labs ... company, is now able to perform sophisticated lung assessments in patients, ... Technologies , Inc. Patients are no longer limited ... ndd,s EasyOne PRO ® , ARL patients like Jeanne R. of ... done in the comfort of her own home. ...
(Date:6/24/2016)... , Belgium , June 24, ... VNRX), today announced the appointment of Dr. ... Directors as a Non-Executive Director, effective June 23, ... Audit, Compensation and Nominations and Governance Committees.  As ... Futcher will provide independent expertise and strategic counsel ...
Breaking Medicine Technology: