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:3/22/2016)... and SANDY, Utah , March ... operates the highest sample volume laboratory in ... and UNIConnect, leaders in clinical sequencing informatics and molecular ... of a project to establish the informatics infrastructure for ... NSO has been contracted by the Ontario Ministry ...
(Date:3/15/2016)... 2016 Yissum Research Development Company of ... of the Hebrew University, announced today the formation of ... of various human biological indicators. Neteera Technologies has completed ... private investors. ... of electromagnetic emissions from sweat ducts, enables reliable and ...
(Date:3/10/2016)... , March 10, 2016 ... new market research report "Identity and Access Management Market ... Audit, Compliance, and Governance), by Organization Size, by Deployment, ... 2020", published by MarketsandMarkets, The market is estimated to ... 12.78 Billion by 2020, at a Compound Annual Growth ...
Breaking Biology News(10 mins):
(Date:4/29/2016)... ... ... Implant Systems announced today that the two-level components for the Revolution™ Spinal System were ... components expand the capabilities of the system and allow Revolution™ to be utilized for ... company has seen significant sales growth in 1Q 2016, and the system is currently ...
(Date:4/28/2016)... , April 28, 2016 ... reports the Company,s CEO  was featured in an ... Enter When VCs Fear To Tread: http://www.lifescienceleader.com/doc/accelerators-enter-when-vcs-fear-to-tread-0001 ... magazine is an essential business journal ... from emerging biotechs to Big Pharmas. Their content ...
(Date:4/28/2016)... York, NY (PRWEB) , ... April 28, 2016 ... ... QuickSTAT has made significant investments in recruiting top industry experts, and expanding its ... Platform, which provides industry-leading tools for clients to manage their clinical trial projects. ...
(Date:4/27/2016)... ... , ... Shimadzu Scientific Instruments (SSI) will be showcasing a ... and Expo. Shimadzu’s high-performance instruments enable laboratories to test cannabis products for potency, ... by booth 1021 to learn how Shimadzu’s instruments can help improve QA/QC testing, ...
Breaking Biology Technology: