About Careers Internship MedBlogs Contact us
Medindia LOGIN REGISTER
Advertisement

Genetic Cause Behind Body Tremors Identified

by VR Sreeraman on August 5, 2012 at 1:35 PM
Font : A-A+

 Genetic Cause Behind Body Tremors Identified

A research has 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.

Advertisement

The researchers will be publishing their findings tomorrow in The American Journal of Human Genetics. 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 today. 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.
Advertisement

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.

Source: Eurekalert
Advertisement

Advertisement
News A-Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
What's New on Medindia
Top 10 Vitamin B12 Foods for Vegetarians - Slideshow
Targeted Screening Program Beneficial for Prostate Cancer Screening
Are Menopause Symptoms Troubling You?: Try these Options
View all
Recommended Reading
News Archive
Date
Category
Advertisement
News Category

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.

More News on:
Genetics and Stem Cells Healthy Living Christianson Syndrome 

Most Popular on Medindia

Noscaphene (Noscapine) Find a Doctor Calculate Ideal Weight for Infants Accident and Trauma Care Post-Nasal Drip Nutam (400mg) (Piracetam) Color Blindness Calculator Sanatogen Blood Pressure Calculator Pregnancy Confirmation Calculator

Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

© All Rights Reserved 1997 - 2022

This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use