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

13.09.2005


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 (www.ajhg.org) 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:
http://www.mayo.edu

More articles from Life Sciences:

nachricht Bare bones: Making bones transparent
27.04.2017 | California Institute of Technology

nachricht Link Discovered between Immune System, Brain Structure and Memory
26.04.2017 | 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: Making lightweight construction suitable for series production

More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.

Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...

Im Focus: Wonder material? Novel nanotube structure strengthens thin films for flexible electronics

Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.

"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...

Im Focus: Deep inside Galaxy M87

The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.

Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...

Im Focus: A Quantum Low Pass for Photons

Physicists in Garching observe novel quantum effect that limits the number of emitted photons.

The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...

Im Focus: Microprocessors based on a layer of just three atoms

Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.

Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Expert meeting “Health Business Connect” will connect international medical technology companies

20.04.2017 | Event News

Wenn der Computer das Gehirn austrickst

18.04.2017 | Event News

7th International Conference on Crystalline Silicon Photovoltaics in Freiburg on April 3-5, 2017

03.04.2017 | Event News

 
Latest News

Bare bones: Making bones transparent

27.04.2017 | Life Sciences

Study offers new theoretical approach to describing non-equilibrium phase transitions

27.04.2017 | Physics and Astronomy

From volcano's slope, NASA instrument looks sky high and to the future

27.04.2017 | Earth Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>