Navigation Links
A mouse model brings new perspectives on Lafora disease
Date:12/12/2011

Short-term energy storage in animal cells is usually achieved through the accumulation of glucose, in the form of long and branched chains, known as glycogen. But when this accumulation happens in neurons it is fatal, causing them to degenerate. This neuronal deterioration and death associated with glycogen accumulation is the hallmark of an extremely rare and progressive type of epilepsy known as Lafora disease (LD).

The journal EMBO Molecular Medicine has just published online the new insights into LD provided by a team of Spanish researchers headed by Joan J. Guinovart, director of the IRB Barcelona and Professor at the University of Barcelona (UB), in collaboration with Agns Gruart and Jos M. Delgado at the Division of Neurosciences at the Pablo Olavide University in Seville, and Eduardo Soriano, Professor at the UB and researcher at IRB Barcelona.

LD is a fatal, inherited and progressive form of epilepsy that causes irreversible neurodegeneration and for which no cure or effective treatment is available. Onset typically occurs during late childhood or adolescence, generally starting with epileptic seizures, progressing into deterioration of neurological functions. One of the hallmarks of the disease is the abnormal accumulation of glycogen aggregates, known as Lafora bodies (LB), in neurons. In these cells, two genes, malin and laforin, act in unison to block glycogen storage in normal conditions. Mutations changes in DNA in either laforin or malin genes are responsible for this disease.

The group of researchers led by Guinovart has developed a genetically engineered mice line lacking the malin gene, thus mimicking human LD in this animal model. The results obtained confirm the role of the malin-laforin complex in the regulation of glycogen synthesis in neurons. Jordi Duran, first author of the study together with Jordi Valls, explains, "Brain cells control their glycogen levels carefully by employing a 'team of wardens
'/>"/>

Contact: Nuria Noriega
34-934-037-255
Institute for Research in Biomedicine (IRB Barcelona)
Source:Eurekalert

Page: 1 2

Related biology technology :

1. ExonHit Launches Mouse Genome SpliceArray(TM) for use in Human Disease Modeling Studies
2. Mouse study reveals genetic component of empathy
3. febit First to Offer Newly Published Mouse Genome on a Chip for DNA/RNA Detection and Enrichment
4. EnVivo Pharmaceuticals Announces Reversal of Cognitive Deficits in Alzheimers Disease Transgenic Mouse Model With Gamma-Secretase Modulator
5. ALPCO Introduces a Mouse HMW and Total Adiponectin ELISA
6. MD Bioproducts Releases a New Mouse T1/ST2 ELISA
7. Crescendo Biologics Announces First Triple Knockout Mouse
8. A knockout resource for mouse genetics
9. Researchers produce detailed map of gene activity in mouse brain
10. Campbell Alliance Sales Practice to Present at CBIs Leadership Summit on Evolving the Pharma Sales Model
11. Repligen Announces Publication of Positive Results with Proprietary HDAC Inhibitor in Huntingtons Disease Model
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/2/2014)... 2, 2014 /PRNewswire-iReach/ -- DeepResearchReports.com adds "2014 Market ... "2014 Market Research Report on Global Ammonium Acetate ... Photo - http://photos.prnewswire.com/prnh/20140902/141873 ... Industry" is a professional and in-depth research report ... Sodium Bicarbonate market. The report introduces Sodium Bicarbonate ...
(Date:9/2/2014)... The Little Company of Mary Hospital in Evergreen ... square-foot West Pavilion patient tower, which included the selection ... for the nurse’s lounge near the maternity ward. ... Hospital’s $180 million, four-year Campus Transformation project is ... the West Pavilion tower to the North Pavilion, as ...
(Date:9/2/2014)... USA (PRWEB) September 02, 2014 Semiconductor ... Light and Light-based Technologies (IYL 2015) visionary John ... SPIE, the international society for optics and photonics ... to Levinson and Dudley along with other awards announced ... Society won by James Harrington, during a gala banquet ...
(Date:9/2/2014)... PROVIDENCE, N.J. , Sept. 2, 2014   ... for MassBio,s 20th Annual Golf Classic, a major fundraiser ... event will be held on September 5 at the ... . The MassBioEd Foundation supports ... through educational programs, workforce development, and lifelong learning. ...
Breaking Biology Technology:Sodium Bicarbonate Market & Ammonium Acetate Industry: China & Global Analysis 2Sodium Bicarbonate Market & Ammonium Acetate Industry: China & Global Analysis 3Sodium Bicarbonate Market & Ammonium Acetate Industry: China & Global Analysis 4Sodium Bicarbonate Market & Ammonium Acetate Industry: China & Global Analysis 5Tufftec® Lockers from Scranton Products Selected by Little Company of Mary Hospital Near Chicago to Create an Uplifting Environment 2Tufftec® Lockers from Scranton Products Selected by Little Company of Mary Hospital Near Chicago to Create an Uplifting Environment 3Levinson, Dudley Win SPIE Directors’ and President’s Awards 2Levinson, Dudley Win SPIE Directors’ and President’s Awards 3Levinson, Dudley Win SPIE Directors’ and President’s Awards 4Linde helps fund STEM education in Massachusetts 2Linde helps fund STEM education in Massachusetts 3
... connecting bones to muscles that raise an eyebrow or propel ... unusually forceful or awkward pull on the strings leaves us ... repair over 300,000 of these injuries every year, and doctors ... Using a combination of nanoscience and biomedical and civil engineering ...
... long a standard tool in biomedical research and diagnostic ... to new electronic biosensing technology developed by a team ... Institute of Technology. Essentially arrays of tiny test ... test multiple samples for their responses to chemicals, living ...
... Advisors LLC, a subsidiary of Ramius LLC (collectively, "Ramius"), today ... has denied Ramius, legitimate request for a list of the ... has launched a tender offer to purchase all of the ... in cash.  Ramius requested the stockholder list materials in accordance ...
Cached Biology Technology:The Achilles' heel of tendons 2The Achilles' heel of tendons 3Novel electronic biosensing technology could facilitate new era of personalized medicine 2Novel electronic biosensing technology could facilitate new era of personalized medicine 3Novel electronic biosensing technology could facilitate new era of personalized medicine 4Cypress Denies Ramius' Legal Right to Stockholder List Materials 2Cypress Denies Ramius' Legal Right to Stockholder List Materials 3
(Date:9/2/2014)... Museum will present the prestigious Parker/Gentry Award to Mr. ... biodiversity conservation awareness. The Parker/Gentry Award is given annually ... or organization whose efforts have had a significant impact ... actions can serve as a model to others. , ... science and conservation news website that draws more than ...
(Date:9/2/2014)... BETHESDA, MD The American Society of Human ... Institute (NHGRI), part of the National Institutes of ... School Science Teacher at The Wellington School in ... Fellow. The 16-month appointment begins today. , The ... early-career genetics professionals expand their skills, experience, and ...
(Date:9/2/2014)... It,s not always true that digital distribution of ... by physical means, at least when file sizes ... study published in Yale,s Journal of Industrial ... of games for consoles such as PlayStation3. Researchers ... caused lower greenhouse gas emissions than game files ...
Breaking Biology News(10 mins):ASHG and NHGRI award first genetics and education fellowship 2
... (NREL) is working with Ecopetrol, the largest oil company ... and palm oil harvesting into fuel ethanol for blending ... (CRADA) between NREL and Ecopetrol aims to optimize the ... the sugars are removed from the sugar cane) and ...
... WASHINGTON D.C. August 13, 2013 -- Adjacent to the walls of ... up our microcirculation -- there exists a peculiar thin layer of ... a few millionths of a meter thick, that layer is vital. ... the site of a cut and start the clotting process. ...
... brightly coloured crowns are better mothers than duller birds, according ... , Unlike humans, birds can see ultra-violet (UV) light. While ... us, to another bird it has the added dimension of ... also involved researchers from the University of California Davis, USA ...
Cached Biology News:NREL and Colombian oil firm unlocking agricultural waste feedstocks for biofuel 2NREL and Colombian oil firm unlocking agricultural waste feedstocks for biofuel 3Computer model predicts red blood cell flow 2Bright birds make good mothers 2
BD Biocoat Matrigel Matrix Thin Layer 35 mm Culture Dishes...
... proteases/caspases initiates apoptosis in mammalian cells. ... provides a simple and convenient means for ... in intact cells. The assay utilizes ... linked to rhodamine 110 (D2R), a reported ...
... a direct antibiotic-based selection system for recombinant ... survival, eliminating the need for costly color ... close to 100% accuracy in recombinant selection. ... robot colony picking. This cloning kit can ...
... imaging software for the microscopy market ... cameras, components and peripherals with powerful ... Its intuitive interface simplifies workflow and ... providing powerful features such as image ...
Biology Products: