Navigation Links
Discovery of source of glycogen 'manufacturing' errors sheds light on fatal disease
Date:3/1/2011

Indiana University scientists have solved a perplexing mystery regarding one of the body's main energy storage molecules, in the process shedding light on a possible route to treatment of a rare but deadly disease in teenagers.

The disease occurs when a genetic mutation causes excessive amounts of phosphate to build up in glycogen. Glycogen is a chain-like molecule the body uses to temporarily store glucose when it's not needed to provide energy for cellular activities. The excess phosphate causes unnatural glycogen structures to appear in the body, including the brain, resulting in progressive neurological problems.

In a paper in the March 2, 2011 issue of the journal Cell Metabolism, a research team led by Peter J. Roach, Ph.D., professor of biochemistry and molecular biology at the IU School of Medicine, has identified where the extra phosphate comes from, and how it is chemically linked to the glycogen molecules. The findings, Dr. Roach said, suggest a possibility for treating the disease stopping the body from producing glycogen.

Lafora disease, named after the Spanish physician who identified it, strikes early in the teen years with epileptic seizures and then other neurological symptoms that grow progressively worse. It is always fatal, usually within 10 years.

"It's a very harrowing disease and there's no treatment right now. It's thankfully rare, but for the families affected it's tragic," said Dr. Roach, Distinguished Professor and a Chancellor's Professor, Indiana University-Purdue University Indianapolis.

The disease is caused by a mutation to one of two genes, one leading to a defective version of a protein called laforin. In previous research, Dr. Roach and his collaborators showed that laforin's role is to remove phosphate residues from glycogen. When the body cannot produce laforin, the phosphate levels in glycogen build up, resulting in Lafora disease.

What had puzzled scient
'/>"/>

Contact: Eric Schoch
eschoch@iupui.edu
317-274-7722
Indiana University School of Medicine
Source:Eurekalert  

Page: 1 2

Related biology news :

1. Chemical equator discovery will aid pollution mapping
2. Sirtris review of sirtuin therapeutics for diseases of aging in Nature Reviews Drug Discovery
3. Groundbreaking discovery may lead to stronger antibiotics
4. Discovery of natural compounds that could slow blood vessel growth
5. Nanoscopic screening process to speed drug discovery
6. FSU researchers discovery leads to $1.5 million grant, potential new treatment of liver fibrosis
7. New $11 million center to speed production of new compounds for drug discovery
8. Discovery of giant roaming deep sea protist provides new perspective on animal evolution
9. New discovery may enhance MRI scans, lead to portable MRI machines
10. Kidney function discovery sheds light on genetic complexity of disease
11. Discovery of new gene associated with diabetes risk suggests link with body clock
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Discovery of source of glycogen 'manufacturing' errors sheds light on fatal disease
(Date:8/29/2014)... - The rise of the Tibetan plateau -- the ... is important for both its profound effect on climate ... published in GSA Bulletin , Katharine Huntington and ... thermometry -- using modern and fossil snail shells to ... southwestern Tibet. , Views range widely on the ...
(Date:8/28/2014)... is pleased to announce the selection of Dr. Fred ... Membership acknowledges those who have served ESA for at ... of the Society that has reached an extraordinary level. ... Governing Board and then voted on by the ESA ... Ceremony at Entomology 2014, ESA,s Annual Meeting in Portland, ...
(Date:8/28/2014)... A new study reports that an expansion of marine ... perform key ecological functions. According to investigators from ... at protecting fish have focused on saving the largest ... species that provide key and difficult-to-replace ecological functions. ... are performed by fish species that also are food ...
Breaking Biology News(10 mins):Snails tell of the rise and fall of the Tibetan Plateau 2Snails tell of the rise and fall of the Tibetan Plateau 3Snails tell of the rise and fall of the Tibetan Plateau 4Snails tell of the rise and fall of the Tibetan Plateau 5Snails tell of the rise and fall of the Tibetan Plateau 6Snails tell of the rise and fall of the Tibetan Plateau 7Fred Baxendale selected as Honorary Member of the Entomological Society of America 2Study finds marine protected areas inadequate for protecting fish and ocean ecology 2
... the intricate structure of cartilage in what they hope will ... one day be treated. , The disease, which affects more ... the wear and tear of the smooth, hard cartilage tissue ... over one another at the joint. , Scientists have ...
... common chemical found in everything from plastics to soaps, ... for the first time, is linked to abdominal obesity ... study by the University of Rochester Medical Center. , ... exposures to phthalates and other common chemicals may be ...
... week of February 12 in an online edition of ... significant insights into normal folding mechanisms as well as ... new insights may lead to the discovery of novel ... and amyloids can play beneficial roles. The subject of ...
Cached Biology News:Cartilage discovery offers arthritis hope 2Phthalates now linked to fat, related health risks 2Scripps research study reveals structural dynamics of single prion molecules 2Scripps research study reveals structural dynamics of single prion molecules 3
(Date:8/28/2014)... A new research platform uses a ... tiny structures undergoing stress and heating, an ... designs for microelectronics and batteries., This new ... about how heating and the surface stress ... Researchers have discussed the merits of surface-stress ...
(Date:8/28/2014)... Willow Grove, PA (PRWEB) August 28, 2014 ... talent, and create a culture that will allow individuals ... that are becoming increasingly important for employers looking to ... life science industries are embracing this trend, as the ... the fabric of a company, which will have real ...
(Date:8/28/2014)... 28, 2014 Sterlitech is proud to ... to its stable of products . These ... cut-offs and include membrane filters with surface charges. ... customer demand for our membrane process testing equipment, and ... flat sheet membranes,” explains Sterlitech President Mark Spatz. ...
(Date:8/28/2014)... Scientists, researchers, and technologists will converge ... Damage 2014 symposium. Marking its 46th year, the ... run 14-17 September. The event is sponsored by ... , The premier conference for basic and applied issues ... materials will engage researchers and engineers from numerous industries ...
Breaking Biology Technology:New analytical technology reveals 'nanomechanical' surface traits 2New analytical technology reveals 'nanomechanical' surface traits 3Klein Hersh International Leads Philadelphia Area Life Science Industry in Company Culture 2Klein Hersh International Leads Philadelphia Area Life Science Industry in Company Culture 3Sterlitech Corporation Enhances Its Selection of Flat Sheet Membrane Filters 2Laser Damage to Draw Researchers, Engineers, Scientists to 46th Annual Conference 2Laser Damage to Draw Researchers, Engineers, Scientists to 46th Annual Conference 3
... unmatched out-of-the-box functionality, BENSALEM, Pa., Oct. ... market leader in providing enterprise-wide,compliance solutions to ... System (QMS) module for Livelink ECM from ... Enterprise Content,Management (ECM) software and solutions. QMS ...
... investors and professionals to share ... sector, FARMINGTON HILLS, Mich., Oct. 18 ... timely information on the,biotechnology sector has expanded its ... the launch of The Biotech Forums. Within,The Biotech ...
... a,biodiagnostics company specializing in glycan biomarkers for diagnosis ... today the,appointment of Dr. Chen Even as Chairman ... board member since 2004, contributes more than a,decade ... very pleased to elevate Dr. Even to the ...
Cached Biology Technology:Stelex Announce QMS Module for Open Text's Livelink ECM 2Stelex Announce QMS Module for Open Text's Livelink ECM 3BiotechWatch Launches The Biotech Forum 2Glycominds Appoints Board of Directors Chairman 2Glycominds Appoints Board of Directors Chairman 3
... is a new product number, ... product number. If showing no ... the old Sigma-Aldrich number (Z71,670-7) ... assistance. ID clarifier: non-barcoded Mfr ...
... kit provides complete components including positive and ... DNA fragmentation in cultured cells and tissue ... procedure provides greater sensitivity than biotinylated or ... flow cytometry. The kit works well with ...
... Whatever your Ion Chromatography requirements, ... more . The newly developed ... sensitivities and exceptionally ultra-low drift . ... regeneration suppression creates even higher ...
... other fluid sources for 8 vessels while ... each individual pump is controlled electronically. Both, ... maintained. ,High-precision controlled miniature pumps can ... allows flow rates between 0 and 420 ...
Biology Products: