Translate
Translate this website into the following languages:



Close Tab
Donations
UC San Diego Health
menu iconMenu
search iconSearch

UCSD Research Reveals Mechanism Involved With Type of Fatal Epilepsy

 

September 19, 2005  |  

Researchers at University of California, San Diego (UCSD) have found that Lafora disease, an inherited form of epilepsy that results in death by the age of 30, can be caused by mutations in a gene that regulates the concentration of the protein laforin. These findings are reported in the current issue of Proceedings of the National Academy of Sciences (PNAS).

Lafora disease is characterized by normal development for the first decade of life, followed by an initial seizure in the second decade, progressively worsening seizures, early dementia, and death within 10 years of onset. Medications can ease the severity of initial symptoms, but there is no long-term treatment or cure for the disease.

A puzzling aspect of the disease is the accumulation of starch-/glycogen-like granules in most tissues of Lafora disease patients. Thus, researchers have long thought that a defect in glycogen metabolism is intimately linked to the disease. Recessive mutations in two genes have been shown to cause Lafora disease. The genes encode the proteins laforin and malin, but the molecular mechanism defining how loss of laforin or malin causes Lafora disease has remained unclear.

Jack E. Dixon, Ph.D., UCSD dean of scientific affairs and professor of pharmacology, and colleagues at UCSD investigated the role of malin in Lafora disease and found that malin physically interacts with laforin and regulates laforin’s concentration by marking it for degradation. Their results show that approximately 40 percent of patients with Lafora disease have mutations in malin that render it unable to mark laforin for degradation. This increase in laforin may lead to Lafora disease through aberrant glycogen metabolism.

This work establishes a few testable models as to the molecular mechanism of the disease. Dixon and colleagues are currently designing experiments to test these models with the hope of gaining the necessary insights to develop potential therapies for Lafora disease.

Co-authors are Matthew S. Gentry, Ph.D., and Carolyn A. Worby, Ph.D., both of the UCSD Department of Pharmacy. This research was funded by the National Institutes of Health.

#  #  #

News Media Contact: Leslie Franz or Nancy Stringer, 619-543-6163, healthscicomm@ucsd.edu

Note to broadcast and cable producers: UCSD provides an on-campus satellite uplink facility for live or pre-recorded television interviews.  Please
phone, or e-mail, the media contact listed above to arrange an interview.

UCSD Health Sciences Communications HealthBeat: /news/


Related_Specialties


Media Contact

Share This Article


Related News

1/12/2017
It’s well known that regular physical activity has health benefits, including weight control, strengthening the heart, bones and muscles and reducing the risk of certain diseases. Recently, researcher ...
12/15/2016
In recent years, researchers have identified specific gene mutations linked to gastrointestinal stromal tumors (GIST), which primarily occur in the stomach or small intestine, but 10 to 15 percent of ...
12/14/2016
Modern hospitals are designed to aid healing in every possible space, from operating rooms and recovery areas to cafeterias and lobbies. One way is through art, and the new Jacobs Medical Center at UC ...
12/13/2016
Researchers at University of California San Diego School of Medicine have discovered that lack of two types of enzymes can lead to liver disease and cancer in mice. In human liver tumors, they found t ...



Follow Us

Our bimonthly newsletter delivers healthy lifestyle tips, patient stories and research discovery news. Subscribe: