Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

NIH scientists find 6 new genetic risk factors for Parkinson's

28.07.2014

Study shows power of combining big data analysis with cutting-edge genomic techniques

Using data from over 18,000 patients, scientists have identified more than two dozen genetic risk factors involved in Parkinson's disease, including six that had not been previously reported. The study, published in Nature Genetics, was partially funded by the National Institutes of Health (NIH) and led by scientists working in NIH laboratories.


Scientists used gene chips to help discover new genes that may be involved with Parkinson's disease.

Credit: Courtesy of the NIH's National Human Genome Research Institute (NHGRI).

"Unraveling the genetic underpinnings of Parkinson's is vital to understanding the multiple mechanisms involved in this complex disease, and hopefully, may one day lead to effective therapies," said Andrew Singleton, Ph.D., a scientist at the NIH's National Institute on Aging (NIA) and senior author of the study.

Dr. Singleton and his colleagues collected and combined data from existing genome-wide association studies (GWAS), which allow scientists to find common variants, or subtle differences, in the genetic codes of large groups of individuals. The combined data included approximately 13,708 Parkinson's disease cases and 95,282 controls, all of European ancestry.

... more about:
»Health »NIA »NIH »Parkinson's »disorders

The investigators identified potential genetic risk variants, which increase the chances that a person may develop Parkinson's disease. Their results suggested that the more variants a person has, the greater the risk, up to three times higher, for developing the disorder in some cases.

"The study brought together a large international group of investigators from both public and private institutions who were interested in sharing data to accelerate the discovery of genetic risk factors for Parkinson's disease," said Margaret Sutherland, Ph.D., a program director at the National Institute of Neurological Disorders and Stroke (NINDS), part of NIH. "The advantage of this collaborative approach is highlighted in the identification of pathways and gene networks that may significantly increase our understanding of Parkinson's disease."

To obtain the data, the researchers collaborated with multiple public and private organizations, including the U.S. Department of Defense, the Michael J. Fox Foundation, 23andMe and many international investigators.

Affecting millions of people worldwide, Parkinson's disease is a degenerative disorder that causes movement problems, including trembling of the hands, arms, or legs, stiffness of limbs and trunk, slowed movements and problems with posture. Over time, patients may have difficulty walking, talking, or completing other simple tasks. Although nine genes have been shown to cause rare forms of Parkinson's disease, scientists continue to search for genetic risk factors to provide a complete genetic picture of the disorder.

The researchers confirmed the results in another sample of subjects, including 5,353 patients and 5,551 controls. By comparing the genetic regions to sequences on a state-of-the-art gene chip called NeuroX, the researchers confirmed that 24 variants represent genetic risk factors for Parkinson's disease, including six variants that had not been previously identified. The NeuroX gene chip contains the codes of approximately 24,000 common genetic variants thought to be associated with a broad spectrum of neurodegenerative disorders.

"The replication phase of the study demonstrates the utility of the NeuroX chip for unlocking the secrets of neurodegenerative disorders," said Dr. Sutherland. "The power of these high tech, data-driven genomic methods allows scientists to find the needle in the haystack that may ultimately lead to new treatments."

Some of the newly identified genetic risk factors are thought to be involved with Gaucher's disease, regulating inflammation and the nerve cell chemical messenger dopamine as well as alpha-synuclein, a protein that has been shown to accumulate in the brains of some cases of Parkinson's disease. Further research is needed to determine the roles of the variants identified in this study.

###

This work was supported by NIA Intramural Research Program and grants from the NINDS (NS037167, NS071674, NS060113, NS036630, NS17950, NS070867, NS36960), the NIA (AG000949, AG000932, AG008122, AG016495, AG033193, AG031287, AG013846, AG025259, AG023629, AG024826) and the National Institute of Environmental Health Sciences NIEHS (ES101986).

Reference:

Nalls et al. "Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease" Nat. Genetics, July 27, 2014. DOI: 10.1038/ng3043

For more information about neurological disorders and the latest neuroscience research:

http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_disease.htm

http://www.grc.nia.nih.gov/

Additional support was provided by the NIH, Department of Defense, the Michael J Fox Foundation for Parkinson's Research, American Parkinson Disease Association, Barnes Jewish Hospital Foundation, Hersenstichting Nederland, the Prinses Beatrix Fonds, the German Federal Ministry of Education, Science, Research and Technology, the German Federal Ministry of Education and Research, the State of Bavaria, the Initiative and Networking Fund of the Helmholtz Association, the French National Agency of Research, France-Parkinson Association, "Investissements d'avenir", Assistance Publique-Hôpitaux de Paris, the Landspitali University Hospital Research Fund, Icelandic Research Council, European Commission, University of Helsinki, Helsinki University Central Hospital, University of Eastern Finland, the Medical Research Council and Wellcome Trust, National Institute for Health Research (NIHR) Biomedical Research Centre, Parkinson's UK, Coriell Cell Repositories, the King Faisal Specialist Hospital and Research Centre, National Institute for Health Research (NIHR) Biomedical Research Centre, Cure Alzheimer's Fund (CAF), Prize4Life, the National Alliance for Research on Schizophrenia and Depression, EMD Serono, Fidelity Biosciences Research Initiative, the Parkinson's disease foundation, University of Thessaly,the Hellenic Secretariat of Research and Technology, GlaxoSmithKline Greece, the Bumpus foundation, the Internationaal Parkinson Fonds, Netherlands Organization for Scientific Research, Netherlands Organization for Health Research and Development, Parkinson's UK.

NINDS is the nation's leading funder of research on the brain and nervous system. The mission of NINDS is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.

The NIA leads the federal government effort conducting and supporting research on aging and the health and well-being of older people. It provides information on age-related cognitive change and neurodegenerative disease specifically at its Alzheimer's Disease Education and Referral (ADEAR) Center at http://www.nia.nih.gov/Alzheimers. Information on health and on aging generally can be found at http://www.nia.nih.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

Barbara McMakin | Eurek Alert!

Further reports about: Health NIA NIH Parkinson's disorders

More articles from Life Sciences:

nachricht Closing the carbon loop
08.12.2016 | University of Pittsburgh

nachricht Newly discovered bacteria-binding protein in the intestine
08.12.2016 | University of Gothenburg

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Significantly more productivity in USP lasers

In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.

Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...

Im Focus: Shape matters when light meets atom

Mapping the interaction of a single atom with a single photon may inform design of quantum devices

Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.

The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

Closing the carbon loop

08.12.2016 | Life Sciences

Applicability of dynamic facilitation theory to binary hard disk systems

08.12.2016 | Physics and Astronomy

Scientists track chemical and structural evolution of catalytic nanoparticles in 3-D

08.12.2016 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>