Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Research provides first whole genome map of genetic variability in Parkinson’s disease


Findings highlight 12 potential ’susceptibility’ genes

Mayo Clinic researchers in collaboration with scientists at Perlegen Sciences, Inc. and funded by the Michael J. Fox Foundation for Parkinson’s Research have produced the first large-scale whole genome map of genetic variability associated with Parkinson’s disease. Their results highlight changes in 12 genes that may increase the risk for Parkinson’s disease in some people. Parkinson’s disease is a disabling and currently incurable disease that affects millions of people worldwide.

Mayo Clinic and Perlegen Sciences will report their findings in The American Journal of Human Genetics. The paper was published online Friday, Sept. 9 ( and will appear in the November 2005 print issue.

"This represents one of the first large-scale whole genome association studies of any disease," said the study’s first author, Mayo Clinic neurologist Demetrius Maraganore, M.D. "It is something we’ve wanted to do for years, and now we finally had the technology and funding to make it happen. If confirmed, the findings may lead to new insights about the causes of Parkinson’s disease."

Significance of the Findings

Both the findings and the technology that produced them are groundbreaking, representing one of the most comprehensive genetic studies of Parkinson’s disease to date with nearly 200 million genetic tests (genotypes) completed. To accomplish this, researchers initially studied the association of about 200,000 single-letter variations in the genome known as single nucleotide polymorphisms, or "SNPs" (pronounced "snips") in patients with Parkinson’s disease. The study examined DNA from 775 people with Parkinson’s disease (cases) and from 775 people without Parkinson’s disease (controls).

"To be most effective, a whole genome association study requires accurate testing of a large number of SNP markers that are distributed across the human genome in a dense and informative pattern," says Dr. Maraganore. "In this respect, our collaborators at Perlegen have set a new standard."

"In one year, the Michael J. Fox Foundation and Mayo Clinic have generated results that will greatly focus future research efforts in Parkinson’s disease," explained David Cox, M.D., Ph.D., chief scientific officer of Perlegen Sciences. "If replication of only one of these findings leads to a better understanding of the causes of the disease or improvements in the early detection or treatment of patients, we will have made significant progress."

Noteworthy findings include:

  • Confirmation that variation in two previously known regions of the genome, PARK10 and PARK11, are likely associated with Parkinson’s disease susceptibility.
  • Identification of 10 additional SNPs that appear to be associated with Parkinson’s disease susceptibility. Some of these are in or near genes with direct biological relevance to the disease. For instance, one of these, the SEMA5A gene, may play an important role in both the development and programmed death of dopamine-producing nerve cells in the brain. Selective degeneration of dopamine neurons in the brain is a hallmark feature of Parkinson’s disease.

Susceptibility genes are genes that may make some people more or less likely to develop a disease but that do not necessarily cause the disease directly. The authors note that in this study, the size of the effect was small for any single SNP; combinations of gene variants or interactions with environmental factors may be necessary to develop Parkinson’s disease.

"This study represents the first large-scale attempt to assess the contribution of genes to susceptibility and development of Parkinson’s disease," said Kenneth Olden, Ph.D., Sc.D., chief scientific advisor for the Michael J. Fox Foundation and former director of the National Institute of Environmental Health Sciences (NIEHS) of the National Institutes of Health. "If confirmed, the finding of 12 potential susceptibility genes is significant. However, equally significant is the fact that this comprehensive study found no strong single genetic determinant of Parkinson’s disease." The Michael J. Fox Foundation is organizing a large-scale validation study of the initial findings.

Lisa Lucier | EurekAlert!
Further information:

More articles from Life Sciences:

nachricht North and South Cooperation to Combat Tuberculosis
22.03.2018 | Universität Zürich

nachricht Researchers Discover New Anti-Cancer Protein
22.03.2018 | Universität Basel

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Researchers Discover New Anti-Cancer Protein

An international team of researchers has discovered a new anti-cancer protein. The protein, called LHPP, prevents the uncontrolled proliferation of cancer cells in the liver. The researchers led by Prof. Michael N. Hall from the Biozentrum, University of Basel, report in “Nature” that LHPP can also serve as a biomarker for the diagnosis and prognosis of liver cancer.

The incidence of liver cancer, also known as hepatocellular carcinoma, is steadily increasing. In the last twenty years, the number of cases has almost doubled...

Im Focus: Researchers at Fraunhofer monitor re-entry of Chinese space station Tiangong-1

In just a few weeks from now, the Chinese space station Tiangong-1 will re-enter the Earth's atmosphere where it will to a large extent burn up. It is possible that some debris will reach the Earth's surface. Tiangong-1 is orbiting the Earth uncontrolled at a speed of approx. 29,000 km/h.Currently the prognosis relating to the time of impact currently lies within a window of several days. The scientists at Fraunhofer FHR have already been monitoring Tiangong-1 for a number of weeks with their TIRA system, one of the most powerful space observation radars in the world, with a view to supporting the German Space Situational Awareness Center and the ESA with their re-entry forecasts.

Following the loss of radio contact with Tiangong-1 in 2016 and due to the low orbital height, it is now inevitable that the Chinese space station will...

Im Focus: Alliance „OLED Licht Forum“ – Key partner for OLED lighting solutions

Fraunhofer Institute for Organic Electronics, Electron Beam and Plasma Technology FEP, provider of research and development services for OLED lighting solutions, announces the founding of the “OLED Licht Forum” and presents latest OLED design and lighting solutions during light+building, from March 18th – 23rd, 2018 in Frankfurt a.M./Germany, at booth no. F91 in Hall 4.0.

They are united in their passion for OLED (organic light emitting diodes) lighting with all of its unique facets and application possibilities. Thus experts in...

Im Focus: Mars' oceans formed early, possibly aided by massive volcanic eruptions

Oceans formed before Tharsis and evolved together, shaping climate history of Mars

A new scenario seeking to explain how Mars' putative oceans came and went over the last 4 billion years implies that the oceans formed several hundred million...

Im Focus: Tiny implants for cells are functional in vivo

For the first time, an interdisciplinary team from the University of Basel has succeeded in integrating artificial organelles into the cells of live zebrafish embryos. This innovative approach using artificial organelles as cellular implants offers new potential in treating a range of diseases, as the authors report in an article published in Nature Communications.

In the cells of higher organisms, organelles such as the nucleus or mitochondria perform a range of complex functions necessary for life. In the networks of...

All Focus news of the innovation-report >>>



Industry & Economy
Event News

Virtual reality conference comes to Reutlingen

19.03.2018 | Event News

Ultrafast Wireless and Chip Design at the DATE Conference in Dresden

16.03.2018 | Event News

International Tinnitus Conference of the Tinnitus Research Initiative in Regensburg

13.03.2018 | Event News

Latest News

Modular safety concept increases flexibility in plant conversion

22.03.2018 | Trade Fair News

New interactive map shows climate change everywhere in world

22.03.2018 | Earth Sciences

New technologies and computing power to help strengthen population data

22.03.2018 | Earth Sciences

Science & Research
Overview of more VideoLinks >>>