Navigation Links
Gene Mutation Linked to Parkinson's Disease
Date:9/17/2007

While more research is needed, finding could prove significant

MONDAY, Sept. 17 (HealthDay News) -- People who carry a certain gene mutation appear to have a greater risk for getting Parkinson's disease and for getting it at a relatively early age, new research suggests.

The study authors also found that because Ashkenazi Jews -- those with an Eastern European background-- are more likely to carry this gene mutation, this population may run an even higher risk for the disease. An estimated 90 percent of American Jews are of Ashkenazi lineage.

Study lead author Lorraine N. Clark, a researcher at Columbia University, described her team's findings as "unique and different."

"We specifically compared patients who had an early onset Parkinson's before age 50 with patients who had a later onset after age 50, and also with patients with and without Jewish ancestry," she said. "And we showed that mutations are twice as common among early onset Parkinson's and also that they're more frequent among patients with Jewish ancestry."

Clark serves as an assistant professor in the department of clinical pathology with the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, as well as the Center for Human Genetics, both at Columbia University.

The findings are published in the Sept. 18 issue of the journal Neurology.

Parkinson's disease is a brain disorder that affects 1.5 million Americans, according to National Parkinson Foundation estimates. Approximately 60,000 news cases occur each year, striking men and women equally, usually over the age of 65.

The disease is characterized by widespread damage to dopamine-producing nerve cells, impeding their ability to regulate body movement and muscle control. Key signs of the disease include tremors, stiffness, balance problems, and slowness of movement. Patients may also experience difficulty with speech and depression. There is no known cure.

To explore potential genetic underpinnings to the onset of Parkinson's, Clark and her colleagues decided to focus on the GBA gene. Mutations of this gene have already been identified as the cause of Gaucher disease, a rare fat-storage disorder that disrupts spleen and brain function.

Gaucher's and Parkinson's have some links, the study authors noted. In some cases, Gaucher's patients have a family history of Parkinson's, while others actually develop neurological features of Parkinson's. It is also one of the most prevalent genetic illnesses among Ashkenazi Jews.

For the new study, the researchers conducted a sequencing analysis of the GBA gene among 278 Parkinson's patients, 178 of who were of Jewish ancestry dating back to all four grandparents. A similar analysis was done among 179 men and women without Parkinson's.

Clark and her team found that 14 percent of the Parkinson's patients had GBA mutations, compared to just 5 percent of the healthy patients. And, while GBA mutations were found among 22 percent of Parkinson's patients who were diagnosed with their illness before the age of 50, only 10 percent of patients diagnosed after 50 had such abnormalities.

Teasing out information on Jewish patients, the researchers found that while nearly 17 percent of Jewish Parkinson's patients had GBA mutations, the figure was 8 percent among non-Jewish Parkinson's patients.

Clark called the study findings preliminary, and she cautioned that it remains unclear whether a single GBA mutation is a cause of Parkinson's or merely a part of a larger puzzle.

Still, she believes the findings could prove helpful in opening up new avenues of research into the disease.

"This is a gene we hadn't really thought about before," she said. "And it implicates new pathways that might be important in the pathogenesis of Parkinson's disease which could lead to the development of new treatment strategies. I do think, however, that further studies are needed in larger patient populations before we could use this work in diagnostic testing and counseling."

Robin Elliott, executive director of the Parkinson's Disease Foundation in New York City, called the new research "very interesting and very worthwhile, solid work in one of the most fruitful areas of Parkinson's research.

"Genetics and the study of genetics has been one of the most exciting areas of Parkinson's in the last 10 years," he said. "In 1996, we had not a single gene associated with the disease, and now it's up to 12 or 13. So, this is a very important study that pushes the science even further, and gives us the basis for more work."

More information

To learn more, visit the Parkinson's Disease Foundation.



SOURCES: Lorraine N. Clark, Ph.D., assistant professor, department of clinical pathology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, and the Center for Human Genetics, Columbia University, New York City; Robin Elliott, executive director, Parkinson's Disease Foundation, New York City; Sept. 18, 2007, Neurology


'/>"/>
Copyright©2007 ScoutNews,LLC.
All rights reserved

Related medicine news :

1. Minor mutations in HIV virus
2. Mutation connected to Osteoporosis
3. Stem Cells Have Few Mutations
4. Genetic mutation to the fountain of youth discovered
5. Gene Mutation Causes Ovarian Failure
6. Gene mutation identified for inherited pain syndrome
7. Mutations in NOTCH1 cause an early developmental defect in the aortic valve
8. Success of HIV may depend in its mutations
9. BRAC2 mutations is also linked with cancers in men
10. Familial Breast cancer without gene mutation not found to cause ovarian cancer.
11. A Word Of Caution: Routine Screening For Breast Cancer Mutation Not Advisdable
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/25/2016)... ... 2016 , ... As a lifelong Southern Californian, Dr. Omkar Marathe earned his ... David Geffen School of Medicine at UCLA. He trained in Internal Medicine at Scripps ... in hematology/oncology at the UCLA-Olive View-Cedars Sinai program where he had the opportunity to ...
(Date:6/24/2016)... Los Angeles, CA (PRWEB) , ... June 24, 2016 , ... ... plastic surgery procedures that most people are unfamiliar with. The article goes on to ... known procedures, but also many of these less common operations such as calf and ...
(Date:6/24/2016)... Texas (PRWEB) , ... June 24, 2016 , ... ... International Conference and Scientific Sessions in Dallas that it will receive two significant ... of the grants came as PHA marked its 25th anniversary by recognizing patients, ...
(Date:6/24/2016)... ... June 24, 2016 , ... Topical BioMedics, Inc, makers of Topricin and MyPainAway Pain ... for a minimum wage raise to $12 an hour by 2020 and then adjusting it ... the lost value of the minimum wage, assure the wage floor does not erode again, ...
(Date:6/24/2016)... (PRWEB) , ... June 24, 2016 , ... ... client, The Grove Investment Group (TGIG), has initiated cultivation and processing operations at ... Las Vegas and Pahrump, Nevada. , Puradigm is the manufacturer of a complete ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... , June 24, 2016 ... appointment of Dr. Edward Futcher to ... Director, effective June 23, 2016.Dr. Futcher was also ... and Governance Committees.  As a non-executive member of ... expertise and strategic counsel to VolitionRx in connection ...
(Date:6/23/2016)... 23, 2016  MedSource announced today that it ... software solution of choice.  This latest decision demonstrates ... to their clients by offering a state-of-the-art electronic ... establishes nowEDC as the EDC platform of choice ... clients.  "nowEDC has long been a preferred EDC ...
(Date:6/23/2016)... , June 23, 2016 Any dentist who has ... of the current process. Many of them do not even ... technical difficulties and high laboratory costs involved. And those who ... it at such a high cost that the majority of ... Dr. Parsa Zadeh , founder of Dental Evolutions ...
Breaking Medicine Technology: