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:2/10/2016)... ... February 10, 2016 , ... LaserShip, a regional parcel carrier that services the ... Eastern Michigan last Friday in order to aid in the Flint water crisis. In ... a facility located in Clio, only 15 miles away from Flint. , “We have ...
(Date:2/10/2016)... ... February 10, 2016 , ... InDemand ... within Healthcare, recently partnered with Heart City Health Center to improve ... 23 years, Heart City Health Center has provided the Elkhart community with access ...
(Date:2/10/2016)... (PRWEB) , ... February 10, 2016 , ... 10 ... Brand. There were three leading bottled water brand owners that topped the list as ... enhance connectivity and optimize conversion. The premier brand was Tibet 5100, a top notch ...
(Date:2/10/2016)... ... February 10, 2016 , ... ... welcomes S.S. Nesbitt as the latest addition to its growing list of Partner ... locations throughout the Southeast, from Orlando to Huntsville and in between. , Harnessing ...
(Date:2/10/2016)... ... February 10, 2016 , ... Pediatric therapists are challenged to ... shows that the Goal Attainment Scale (GAS) captures 20% more change in outcomes ... more about the Goal Attainment Scale, Education Resources Inc. is offering a course ...
Breaking Medicine News(10 mins):
(Date:2/10/2016)... and PITTSBURGH, Feb. 10, 2016 Mylan N.V. (NASDAQ, ... quarter and year ended December 31, 2015. ... Full year adjusted total revenues of $9.45 billion, up ... year; GAAP total revenues of $9.43 billion. Excluding the ... markets specialty and branded generics business (the "EPD Business"), ...
(Date:2/10/2016)... , Feb. 10, 2016  Resolve Therapeutics, ... transformative new approaches to the treatment of lupus ... of a multiple ascending dose study in patients ... compound RSLV-132. --> ... placebo-controlled multiple ascending dose study of RSLV-132 in ...
(Date:2/10/2016)... , Feb. 10, 2016  Rich Pharmaceuticals, Inc. (OTC ... a 1-for-100 reverse split of its issued and outstanding ... trading on Thursday, February 11, 2016. The Company,s common ... CUSIP number 76303T308 and temporary ticker symbol "RCHAD". After ... under the ticker symbol (RCHA).  --> ...
Breaking Medicine Technology: