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:

(Date:6/3/2016)... 3, 2016 Das ... Nepal hat ein 44 ... geprägter Kennzeichen, einschließlich Personalisierung, Registrierung und IT-Infrastruktur, ... Produktion und Implementierung von Identitätsmanagementlösungen. Zahlreiche renommierte ... Januar teilgenommen, aber Decatur wurde als konformste ...
(Date:5/24/2016)... -- Ampronix facilitates superior patient care by providing unparalleled technology to leaders of the ... latest premium product recently added to the range of products distributed by Ampronix. ... ... ... Display- Ampronix News ...
(Date:5/3/2016)... Lithuania , May 3, 2016  Neurotechnology, ... released the MegaMatcher Automated Biometric Identification System ... of large-scale multi-biometric projects. MegaMatcher ABIS can process ... accuracy using any combination of fingerprint, face or ... MegaMatcher SDK and MegaMatcher Accelerator ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... ... June 23, 2016 , ... Regulatory Compliance Associates® ... provides a free webinar on Performing Quality Investigations: Getting to Root ... CT at no charge. , Incomplete investigations are still a major concern to ...
(Date:6/23/2016)... SAN FRANCISCO , June 22, 2016  Amgen ... platinum sponsorship of the QB3@953 life sciences ... improve human health. The shared laboratory space at QB3@953 ... startups overcome a key obstacle for many early stage ... As part of the sponsorship, Amgen launched two "Amgen ...
(Date:6/22/2016)... 22, 2016 Cell Applications, Inc. and ... to produce up to one billion human induced ... one week. These high-quality, consistent stem cells enable ... and spend more time doing meaningful, relevant research. ... high-volume manufacturing process that produces affordable, reliable HiPSC ...
(Date:6/22/2016)... , June 22, 2016  According to ... next generation sequencing (NGS) market include significant efforts ... smaller sequencers.  More accessible and affordable sequencers, say ... growing demand for consumables including sample prep materials.  ... Market for Sample Preparation for Next Generation Sequencing ...
Breaking Biology Technology: