Featured Research

from universities, journals, and other organizations

Researchers Discover Gene Mutations For Parkinson's Disease

Date:
October 25, 2004
Source:
NIH/National Institute On Aging
Summary:
An international research team, led by scientists at the National Institute on Aging (NIA), has discovered a gene, which when mutated, causes Parkinson's disease in some families. Although Parkinson's disease is usually not inherited, the discovery of this gene and further study of how it works could open up new avenues of research for preventing or delaying the onset of the disease.

An international research team, led by scientists at the National Institute on Aging (NIA), has discovered a gene, which when mutated, causes Parkinson's disease in some families. Although Parkinson's disease is usually not inherited, the discovery of this gene and further study of how it works could open up new avenues of research for preventing or delaying the onset of the disease. In research, the study of rare familial forms of a disease has often led to major insights into the pathogenesis of more common forms.

Related Articles


The finding was published online by Neuron at noon ET on October 22, 2004. The collaborative work was spearheaded by Andrew Singleton, Ph.D., at the NIA, Jordi Perez-Tur of the Institut de Biomedicina de Valencia in Spain, and Nick W. Wood of the Institute of Neurology in London. The NIA is a part of the National Institutes of Health (NIH) at the U.S. Department of Health and Human Services.

"Parkinson's disease has a devastating impact upon individuals," says Elias A. Zerhouni, M.D., Director of the NIH. "This finding provides scientists with important new information about genetic mutations that underlie this disease, giving us new understanding about molecular mechanisms. Ultimately, this research will help in the development of targeted interventions that could actually alter the course of this disabling disease."

The gene, PARK8, encodes a protein named dardarin by the researchers, from the Basque word dardara, which means tremor, a major symptom of Parkinson's disease. It was isolated on chromosome 12 by investigators who studied five families with a history of Parkinson's disease who lived in the Basque region of Spain and in England. First, the group identified a small region of the chromosome 12 shared by all of the Basque families and then systematically assessed each gene in this region for mutations that might cause disease. The investigators identified two mutations in the same gene, one associated with Parkinson's disease in the Basque families and the other which was linked to the disease in the English family.

"The discovery of this cluster of Basque families with Parkinson's disease helped us to narrow the genetic region we were interested in," Dr. Singleton says. Once the genes for a particular complex trait or disease, such as Parkinson's, are identified within "founder" populations, such as the Basques, researchers can use this information to isolate interacting genes and assess their importance in more genetically diverse cultures. Worldwide, the researchers have identified another 8 to 11 families suspected of having similar mutations, including at least one in the United States.

The investigators were brought together by Dr. Singleton to pool resources and speed the search. "This was a true collaborative venture that we couldn't have done working separately," he says.

Dr. Singleton points out that other groups are working on isolating additional genes involved in the disease. There are likely other mutations in the Parkinson's disease population, he says, noting that the new data suggest that there will be mutations in typical sporadic Parkinson's disease cases in addition to those who have a family history of the disease.

About 50,000 Americans are diagnosed with Parkinson's disease each year. The disease occurs when certain nerve cells die or become impaired and can no longer produce dopamine. Without it, individuals can develop tremor or trembling in hands, arms, legs, jaw, and face; rigidity or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability or impaired balance and coordination. Patients may also have difficulty walking, talking, or completing other simple tasks. The disease is both chronic and progressive. Parkinson's disease is not usually inherited, but incidence of the disease increases with age, with an average onset at about 60 years.

###

The NIA conducts and supports research on aging and age-related diseases, including neurodegenerative diseases such as Parkinson's disease. For more information on NIA's research programs in this area, visit its Alzheimer's Disease Education and Referral (ADEAR) Center website at http://www.alzheimers.org , or call 1-800-438-4380. The National Institute of Neurological Disorders and Stroke (NINDS), also part of the NIH, conducts research on Parkinson's disease and other neurological disorders and provides information to the public and to patients on the disease. For more information on Parkinson's disease specifically, please visit the NINDS website at http://www.ninds.gov.


Story Source:

The above story is based on materials provided by NIH/National Institute On Aging. Note: Materials may be edited for content and length.


Cite This Page:

NIH/National Institute On Aging. "Researchers Discover Gene Mutations For Parkinson's Disease." ScienceDaily. ScienceDaily, 25 October 2004. <www.sciencedaily.com/releases/2004/10/041025124947.htm>.
NIH/National Institute On Aging. (2004, October 25). Researchers Discover Gene Mutations For Parkinson's Disease. ScienceDaily. Retrieved December 19, 2014 from www.sciencedaily.com/releases/2004/10/041025124947.htm
NIH/National Institute On Aging. "Researchers Discover Gene Mutations For Parkinson's Disease." ScienceDaily. www.sciencedaily.com/releases/2004/10/041025124947.htm (accessed December 19, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, December 19, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Kids Die While Under Protective Services

Kids Die While Under Protective Services

AP (Dec. 18, 2014) As part of a six-month investigation of child maltreatment deaths, the AP found that hundreds of deaths from horrific abuse and neglect could have been prevented. AP's Haven Daley reports. (Dec. 18) Video provided by AP
Powered by NewsLook.com
Dads-To-Be Also Experience Hormone Changes During Pregnancy

Dads-To-Be Also Experience Hormone Changes During Pregnancy

Newsy (Dec. 18, 2014) A study from University of Michigan researchers found that expectant fathers see a decrease in testosterone as the baby's birth draws near. Video provided by Newsy
Powered by NewsLook.com
Prenatal Exposure To Pollution Might Increase Autism Risk

Prenatal Exposure To Pollution Might Increase Autism Risk

Newsy (Dec. 18, 2014) Harvard researchers found children whose mothers were exposed to high pollution levels in the third trimester were twice as likely to develop autism. Video provided by Newsy
Powered by NewsLook.com
UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins