About Careers Internship MedBlogs Contact us
Medindia LOGIN REGISTER
Advertisement

Gene That Causes Rare Disease In Children Identified

by VR Sreeraman on December 18, 2011 at 8:08 PM
Font : A-A+

 Gene That Causes Rare Disease In Children Identified

A team of researchers have identified the gene that causes a rare childhood neurological disorder called PKD/IC, or "paroxysmal kinesigenic dyskinesia with infantile convulsions." The condition causes epilepsy in babies and movement disorders in older children.

The study led by scientists at the University of California, San Francisco involved clinics in cities as far flung as Tokyo, New York, London and Istanbul and may improve the ability of doctors to diagnose PKD/IC, and it may shed light on other movement disorders, like Parkinson's disease.

Advertisement

The culprit behind the disease turns out to be a mysterious gene found in the brain called PRRT2. Nobody knows what this gene does, and it bears little resemblance to anything else in the human genome.

"This is both exciting and a little bit scary," said Louis Ptacek, MD, who led the research. Ptacek is the John C. Coleman Distinguished Professor of Neurology at UCSF and a Howard Hughes Medical Institute Investigator.
Advertisement

Discovering the gene that causes PKD/IC will help researchers understand how the disease works. It gives doctors a potential new way of definitively diagnosing the disease by looking for genetic mutations in the gene. The work may also shed light on other conditions that are characterized by movement disorders, including possibly Parkinson's disease.

"Understanding the underlying biology of this disease is absolutely going to help us understand movement disorders in general," Ptacek said.

About the Disease

PKD/IC strikes infants with epileptic seizures that generally disappear within a year or two. However, the disease often reemerges later in childhood as a movement disorder in which children suffer sudden, startling, involuntary jerks when they start to move. Even thinking about moving is enough to cause some of these children to jerk involuntarily.

The disease is rare, and Ptacek estimates strikes about one out of every 100,000 people in the United States. At the same time, the disease is classified as "idiopathic"—which is just another way of saying we don't really understand it, Ptacek said.

If you take an image of the brain by MRI, patients with the disease all look completely normal. There are no injuries, tumors or other obvious signs that account for the movements—as is often the case with movement disorders. Work with patients in the clinic had suggested a genetic cause, however.

"Sometimes we trace the family tree, and lo and behold, there is a history of it," said Ptacek. In the last several years, he and his colleagues have developed a large cohort of patients whose families have a history of the disease.

The new research was based on a cohort of 103 such families that included one or more members with the disease. Genetic testing of these families led to the researchers to mutations in the PRRT2 gene, which cause the proteins the gene encodes to shorten or disappear entirely in the brain and spinal cord, where they normally reside.

One possible explanation for the resulting neurological symptoms, the researchers found, relates to a loss of neuronal regulation. When the genetic mutations cause the gene products to go missing, the nerve cells where they normally appear may become overly excited, firing too frequently or strongly and leading to the involuntary movements.

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 9 Reasons Why We Should Practice Kindness
Top 10 Vitamin B12 Foods for Vegetarians - Slideshow
Targeted Screening Program Beneficial for Prostate Cancer Screening
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:
DNA Finger Printing Height and Weight-Kids Incurable Diseases 

Most Popular on Medindia

Indian Medical Journals Sanatogen Drug - Food Interactions Blood Pressure Calculator Post-Nasal Drip Turmeric Powder - Health Benefits, Uses & Side Effects Vent Forte (Theophylline) Selfie Addiction Calculator Blood Donation - Recipients Daily Calorie Requirements

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