Navigation Links
UCSD research reveals mechanism involved with type of fatal epilepsy

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 disea se.

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.


'"/>

Source:University of California - San Diego


Related biology news :

1. Columbia research lifts major hurdle to gene therapy for cancer
2. U of M researcher examines newly emerging deadly disease
3. NYU researchers simulate molecular biological clock
4. First atlas of key brain genes could speed research on cancer, neurological diseases
5. New research questions basic tenet of neuron function
6. Vital step in cellular migration described by UCSD medical researchers
7. ASU researchers finds novel chemistry at work to provide parrots vibrant red colors
8. UCSD researchers maintain stem cells without contaminated animal feeder layers
9. Why do insects stop breathing? To avoid damage from too much oxygen, say researchers
10. New protein discovered by Hebrew University researchers
11. First real-time view of developing neurons reveals surprises, say Stanford researchers
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:5/20/2016)... May 20, 2016  VoiceIt is excited to ... VoicePass. By working together, VoiceIt and ... VoiceIt and VoicePass take slightly different approaches to ... both security and usability. ... this new partnership. "This marketing and ...
(Date:5/3/2016)... 3, 2016  Neurotechnology, a provider of high-precision ... Automated Biometric Identification System (ABIS) , a complete ... MegaMatcher ABIS can process multiple complex biometric transactions ... of fingerprint, face or iris biometrics. It leverages ... and MegaMatcher Accelerator , which have been ...
(Date:4/26/2016)... -- Research and Markets has announced the ...  report to their offering.  , ,     (Logo: ... forecast the global multimodal biometrics market to grow ... 2016-2020.  Multimodal biometrics is being implemented ... healthcare, BFSI, transportation, automotive, and government for controlling ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... 2016  Liquid Biotech USA ... a Sponsored Research Agreement with The University of ... from cancer patients.  The funding will be used ... with clinical outcomes in cancer patients undergoing a ... be employed to support the design of a ...
(Date:6/24/2016)... ... , ... Researchers at the Universita Politecnica delle Marche in Ancona combed medical ... mesothelioma. Their findings are the subject of a new article on the Surviving Mesothelioma ... in the blood, lung fluid or tissue of mesothelioma patients that can help point ...
(Date:6/23/2016)... A person commits a crime, and the detective ... the criminal down. An outbreak of foodborne illness ... (FDA) uses DNA evidence to track down the bacteria that ... It,s not. The FDA has increasingly used a complex, cutting-edge ... illnesses. Put as simply as possible, whole genome sequencing is ...
(Date:6/23/2016)... June 23, 2016   EpiBiome , a precision ... million in debt financing from Silicon Valley Bank (SVB). ... and to advance its drug development efforts, as well ... "SVB has been an incredible strategic partner ... a traditional bank would provide," said Dr. Aeron ...
Breaking Biology Technology: