Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers identify gene mutation as major cause of Parkinson’s in Ashkenazi Jewish patients

26.01.2006


International team led by scientists at Einstein and Beth Israel



Researchers at the Albert Einstein College of Medicine of Yeshiva University and its Manhattan hospital affiliate, Beth Israel Medical Center, have found that a specific mutation in a single gene is a major cause of Parkinson’s disease among Ashkenazi (Eastern European) Jews. The report will appear in the January 26 issue of The New England Journal of Medicine.

"Like the discovery of the BRCA1 and BRCA2 gene mutations for breast cancer, this finding will directly affect the way Parkinson’s disease is diagnosed in Ashkenazi Jews," says Dr. Susan B. Bressman, senior investigator of the report, who also is Chairperson of Neurology at Beth Israel, as well as Professor and Vice Chair of Neurology at Einstein. "It also emphasizes the benefit of focusing genetic studies in a specific ethnic group, even with regard to a disease not thought to be primarily genetic in origin,"


"Up until now, genetic counseling for Parkinson’s disease hasn’t really been considered," adds study co-author Dr. Laurie J. Ozelius, Associate Professor of Molecular Genetics at Einstein. "Our finding should bring genetic counseling for Parkinson’s disease to the forefront along with genetic testing for early detection of Parkinson’s disease."

The researchers focused on a gene called LRRK2, which is mutated in about 1% of late-onset non-familial cases of Parkinson’s disease in those patients who are primarily of European ancestry.

Their study involved 120 unrelated Ashkenazi Jewish Parkinson’s disease patients who had been seen as outpatients at Beth Israel’s neurology department and screened for the gene. For comparison, a control group of 317 Ashenazi Jews who did not have Parkinson’s disease was also studied. DNA was extracted from white blood cells or cheek cells of all the study participants and analyzed for mutations.

The G2019S mutation--the most common of several possible LRRK2 mutations--was detected in 18.3 percent (22 out of 120) of the Ashkenazi Jewish Parkinson’s patients compared with only 1.3 percent (4 out of 317) of control patients.

The mutation’s role was even more dramatic when the 120 Parkinson’s disease patients were divided into those (37) with a family history of the disease (defined as having at least one affected first, second, or third degree relative) and those (83) with no family history. The G2019S mutation was found in 29.7 percent (11/37) of the familial Parkinson’s cases but also in 13.3 percent (11/83) of so-called sporadic or nonfamilial cases. The frequency of this mutation among Ashkenazi Parkinson’s patients was 15 to 20 times higher than has been reported among patients of European ancestry in general.

In addition to Ashkenazi Jews, the researchers note that a group of North Africans of Arab descent have been found to have a high frequency of this same gene mutation as a cause of Parkinson’s disease. The two groups appear to share the same origin or founder, suggesting a probable Middle Eastern origin for this mutation.

Karen Gardner | EurekAlert!
Further information:
http://www.aecom.yu.edu

More articles from Life Sciences:

nachricht At last, butterflies get a bigger, better evolutionary tree
16.02.2018 | Florida Museum of Natural History

nachricht New treatment strategies for chronic kidney disease from the animal kingdom
16.02.2018 | Veterinärmedizinische Universität Wien

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Demonstration of a single molecule piezoelectric effect

Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale

Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...

Im Focus: Hybrid optics bring color imaging using ultrathin metalenses into focus

For photographers and scientists, lenses are lifesavers. They reflect and refract light, making possible the imaging systems that drive discovery through the microscope and preserve history through cameras.

But today's glass-based lenses are bulky and resist miniaturization. Next-generation technologies, such as ultrathin cameras or tiny microscopes, require...

Im Focus: Stem cell divisions in the adult brain seen for the first time

Scientists from the University of Zurich have succeeded for the first time in tracking individual stem cells and their neuronal progeny over months within the intact adult brain. This study sheds light on how new neurons are produced throughout life.

The generation of new nerve cells was once thought to taper off at the end of embryonic development. However, recent research has shown that the adult brain...

Im Focus: Interference as a new method for cooling quantum devices

Theoretical physicists propose to use negative interference to control heat flow in quantum devices. Study published in Physical Review Letters

Quantum computer parts are sensitive and need to be cooled to very low temperatures. Their tiny size makes them particularly susceptible to a temperature...

Im Focus: Autonomous 3D scanner supports individual manufacturing processes

Let’s say the armrest is broken in your vintage car. As things stand, you would need a lot of luck and persistence to find the right spare part. But in the world of Industrie 4.0 and production with batch sizes of one, you can simply scan the armrest and print it out. This is made possible by the first ever 3D scanner capable of working autonomously and in real time. The autonomous scanning system will be on display at the Hannover Messe Preview on February 6 and at the Hannover Messe proper from April 23 to 27, 2018 (Hall 6, Booth A30).

Part of the charm of vintage cars is that they stopped making them long ago, so it is special when you do see one out on the roads. If something breaks or...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

2nd International Conference on High Temperature Shape Memory Alloys (HTSMAs)

15.02.2018 | Event News

Aachen DC Grid Summit 2018

13.02.2018 | Event News

How Global Climate Policy Can Learn from the Energy Transition

12.02.2018 | Event News

 
Latest News

Fingerprints of quantum entanglement

16.02.2018 | Information Technology

'Living bandages': NUST MISIS scientists develop biocompatible anti-burn nanofibers

16.02.2018 | Health and Medicine

Hubble sees Neptune's mysterious shrinking storm

16.02.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>