Featured Research

from universities, journals, and other organizations

Researchers Find A Mutation In LRRK2 Gene Causes Parkinson's Disease In Several North American And European Families

Date:
April 5, 2005
Source:
Mayo Clinic
Summary:
Neuroscientists at Mayo Clinic in Jacksonville, Fla., leading a team of researchers in the United States and Europe, have discovered that a novel mutation in the recently identified LRRK2 gene causes parkinsonism in several North American and European families.

JACKSONVILLE, Fla., Feb. 24, 2005 -- Neuroscientists at Mayo Clinic in Jacksonville, Fla., leading a team of researchers in the United States and Europe, have discovered that a novel mutation in the recently identified LRRK2 gene causes parkinsonism in several North American and European families. Their findings will be reported in the April edition of the American Journal of Human Genetics. The disease-causing G2019S mutation in the LRRK2 gene is the first time a genetic cause has been associated with typical, late-onset Parkinson's disease.

The researchers found the mutation by DNA sequencing of the LRRK2 gene in families with parkinsonism. These families came from the United States, Norway, Ireland and Poland. Family members of the patients with the G2019S mutation were subsequently screened, and 22 of 42 were found to carry the same mutation. Seven of them were already diagnosed with Parkinson's disease. The mutation was absent in more than 2,000 healthy control individuals. Subsequent screening identified several patients with sporadic Parkinson's disease (i.e., no family history) who were positive for this mutation. Interestingly, all G2019S patients shared a genetic pattern indicating a common, although ancient, ancestor.

Parkinsonism is a syndrome characterized by resting tremor, rigidity, slow movement and postural instability. The most common form of Parkinson's disease, which manifests late in life, was thought to be sporadic. However, these findings indicate a genetic component of the disease. "It's a small number of cases," says Mayo Clinic neuroscientist Matthew Farrer (new window), Ph.D., whose lab sequenced the gene, "but it will be insightful for creating models of Parkinson's and extrapolating from that to the disease in general."

Age of onset of clinical symptoms of the disease varied, even within the same family. Within one family alone, age of symptom onset ranged from 39 to 78 years. In addition, the older the patient, the more likely he or she exhibited symptoms.

"From a research point of view, this is the first time we could identify what appears to be typical Parkinson's disease cases before people develop symptoms," Farrer says. "We know if someone inherits the mutation they are going to get Parkinson's disease."

Farrer and his colleagues are beginning to explore the cellular role of the LRRK2 protein and the reason it causes disease when the mutant gene is present. "It's an exciting time in the study of the genetics of Parkinson's disease," (new window) says Farrer. "There are already clinical trials of mixed-lineage kinase inhibitors that may be targeted at this form of the disorder. Our objectives are to understand the molecular events that cause Parkinson's disease and to target therapeutics to halt its progression."


Story Source:

The above story is based on materials provided by Mayo Clinic. Note: Materials may be edited for content and length.


Cite This Page:

Mayo Clinic. "Researchers Find A Mutation In LRRK2 Gene Causes Parkinson's Disease In Several North American And European Families." ScienceDaily. ScienceDaily, 5 April 2005. <www.sciencedaily.com/releases/2005/03/050329131159.htm>.
Mayo Clinic. (2005, April 5). Researchers Find A Mutation In LRRK2 Gene Causes Parkinson's Disease In Several North American And European Families. ScienceDaily. Retrieved July 25, 2014 from www.sciencedaily.com/releases/2005/03/050329131159.htm
Mayo Clinic. "Researchers Find A Mutation In LRRK2 Gene Causes Parkinson's Disease In Several North American And European Families." ScienceDaily. www.sciencedaily.com/releases/2005/03/050329131159.htm (accessed July 25, 2014).

Share This




More Health & Medicine News

Friday, July 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

AFP (July 24, 2014) A so-called drugs rehab 'clinic' is closed down in Pakistan after police find scores of ‘patients’ chained up alleging serial abuse. Duration 03:05 Video provided by AFP
Powered by NewsLook.com
Too Few Teens Receiving HPV Vaccination, CDC Says

Too Few Teens Receiving HPV Vaccination, CDC Says

Newsy (July 24, 2014) The Centers for Disease Control and Prevention is blaming doctors for the low number of children being vaccinated for HPV. Video provided by Newsy
Powered by NewsLook.com
New Painkiller Designed To Discourage Abuse: Will It Work?

New Painkiller Designed To Discourage Abuse: Will It Work?

Newsy (July 24, 2014) The FDA approved Targiniq ER on Wednesday, a painkiller designed to keep users from abusing it. Like any new medication, however, it has doubters. Video provided by Newsy
Powered by NewsLook.com
Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Newsy (July 24, 2014) Sheik Umar Khan has treated many of the people infected in the Ebola outbreak, and now he's become one of them. Video provided by Newsy
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:
from the past week

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