Featured Research

from universities, journals, and other organizations

Genetic cause for body tremors found

Date:
August 2, 2012
Source:
Universite de Montreal
Summary:
People suffering from the “essential tremor” disorder can now be more easily diagnosed.

Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have linked some cases of Essential Tremor (ET) to a specific genetic problem. ET is the most common movement disorder, becoming increasingly frequent with increasing age, which is characterized by an involuntary shaking movement (tremor) that occurs with motion, particularly when doing precise fine movement. The researchers will be publishing their findings August 3 in The American Journal of Human Genetics.

Related Articles


Exactly why this shaking occurs has remained unknown, despite the work of many clinicians and researchers for decades. While it is known that there is a problem with the parts of the brain that control certain muscles, it has been a challenging endeavor to identify what exactly is malfunctioning in the nervous system of affected individuals. Despite strong evidence that the disease has a genetic basis and years of research effort, no actual genetic link had been identified until now.

Scientists already knew that mutations in a gene called FUS (Fused in Sarcoma) cause amyotrophic lateral sclerosis (ALS), a disease of the nerve cells in the brain and spinal cord that control voluntary muscle movement. The ET research team was successful in identifying mutations that cause ET in this gene, and they also proved that the disease mechanisms for ET and ALS FUS mutations are different. "When I started my post-doctoral work in the Rouleau laboratory, I felt compelled to study essential tremor. I saw a great opportunity to identify the first ET gene considering the plethora of families collected for study in the laboratory, and the availability of new sequencing technologies that has revolutionized gene discovery efforts," said lead author Dr. Nancy Merner. "As a proof of principle study, we chose one family to sequence and took a simple approach to overcome particular clinical barriers that have hindered previous gene discovery attempts."

The other members of the research team share her clinical focus. "This discovery has provided the world with the first insight toward the disease mechanism of essential tremor, which is crucial for disease management, particularly for future drug developments. It also presents a logical approach that can be used for additional ET gene discoveries, which we are currently pursuing" said Dr. Guy Rouleau. "There is currently a lack of consensus on the diagnostic criteria of ET thus a genetic diagnosis can be beneficial, especially for familial cases. Transitioning to a genetic diagnosis would cut down on ET misdiagnosis," added Dr. Patrick Dion who is another key researcher on this project. Misdiagnosis occurs in 37-50% of individual cases.

To affected individuals, the tremors are generally annoying and embarrassing, and can interfere with everyday tasks such as working, writing, eating, or drinking, since tremors affecting the hands are the most common and affected individuals can have trouble holding or using small objects. "Our overall goal in this endeavor is to improve the quality of life of affected individuals," said Dr. Merner. "The road is now paved for improvement."

The identification of FUS was performed in the Rouleau laboratory and supported by the Chaire Jeanne-et-J.-Louis-Lévesque en Génétique des Maladies du Cerveau de l'Université de Montréal. The Canadian Institutes of Health Research has also funded the pursuit for additional ET genes.


Story Source:

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


Journal Reference:

  1. Nancy D. Merner, Simon L. Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique V. Belzil, Jean-Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne-Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, Guy A. Rouleau. Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor. The American Journal of Human Genetics, 2012; DOI: 10.1016/j.ajhg.2012.07.002

Cite This Page:

Universite de Montreal. "Genetic cause for body tremors found." ScienceDaily. ScienceDaily, 2 August 2012. <www.sciencedaily.com/releases/2012/08/120802122307.htm>.
Universite de Montreal. (2012, August 2). Genetic cause for body tremors found. ScienceDaily. Retrieved December 19, 2014 from www.sciencedaily.com/releases/2012/08/120802122307.htm
Universite de Montreal. "Genetic cause for body tremors found." ScienceDaily. www.sciencedaily.com/releases/2012/08/120802122307.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

The Best Tips to Curb Holiday Carbs

The Best Tips to Curb Holiday Carbs

Buzz60 (Dec. 19, 2014) — It's hard to resist those delicious but fattening carbs we all crave during the winter months, but there are some ways to stay satisfied without consuming the extra calories. Vanessa Freeman (@VanessaFreeTV) has the details. Video provided by Buzz60
Powered by NewsLook.com
Sierra Leone Bikers Spread the Message to Fight Ebola

Sierra Leone Bikers Spread the Message to Fight Ebola

AFP (Dec. 19, 2014) — More than 100 motorcyclists hit the road to spread awareness messages about Ebola. Nearly 7,000 people have now died from the virus, almost all of them in west Africa, according to the World Health Organization. Video provided by AFP
Powered by NewsLook.com
Researchers Test Colombian Village With High Alzheimer's Rates

Researchers Test Colombian Village With High Alzheimer's Rates

AFP (Dec. 19, 2014) — In Yarumal, a village in N. Colombia, Alzheimer's has ravaged a disproportionately large number of families. A genetic "curse" that may pave the way for research on how to treat the disease that claims a new victim every four seconds. Duration: 02:42 Video provided by AFP
Powered by NewsLook.com
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

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