Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

UK Researchers Solve Metabolic Mystery Lending Insight Into Lafora Disease

28.01.2015

Scientists at the University of Kentucky College of Medicine have determined how an enzyme essential for energy metabolism functions, solving a mystery eluding molecular biologists for decades.

Matthew Gentry, Ph.D, and Craig Vander Kooi, Ph.D, associate professors of molecular and cellular biochemistry, and researcher Madushi Raththagala, Ph.D, recently discovered the role of the enzyme laforin in modifying human glycogen and thereby preventing neurodegeneration.


UKNow

From left: Madushi Raththagala, Craig Vander Kooi and Matthew Gentry.

Their work provides fundamental insights that link energy metabolism with the fatal, neurodegenerative form of epilepsy called Lafora disease. These findings were reported Jan. 22, 2015, in the journal, Molecular Cell.

Lafora disease was first described by Gonzalo Rodriquez-Lafora in 1911. In 1998, a team of scientists at University of Toronto identified the laforin gene as being mutated in Lafora disease patients. Mutations in the gene encoding the laforin protein result in the accumulation aberrant glycogen-like accumulations called Lafora bodies that resemble plant starch more than human glycogen.

Previous research showed Lafora bodies are the driving agents of Lafora disease. Lafora disease patients develop normally until their second decade of life when they experience an epileptic episode. These episodes increase in severity and number until the patient eventually dies from a massive seizure, status epilepticus or aspiration pneumonia.

Through their research, Raththagala, Vander Kooi, and Gentry determined the structural basis for the specific enzymatic function of laforin. This discovery allowed them to define how laforin modifies glycogen to inhibit Lafora body formation. Additionally, their work defines why specific patient mutations in laforin result in the disease, which opens pathways to understanding and treating the disease.

“A number of groups have tried to determine the structure of laforin over the last 17 years and no one had succeeded,” Gentry said. “Dr. Raththagala worked tirelessly trying different strategies that we developed to achieve this goal. When we realized our success to get over the final hurdle, I had to sit down to fully comprehend our accomplishment. It is exciting to report this structure, but even more exciting to now consider potential therapeutic possibilities.”

MEDIA CONTACT: Elizabeth Adams, elizabethadams@uky.edu

Elizabeth Adams | newswise
Further information:
http://www.uky.edu

More articles from Health and Medicine:

nachricht The genes are not to blame
20.07.2018 | Technische Universität München

nachricht Targeting headaches and tumors with nano-submarines
20.07.2018 | Universitätsmedizin der Johannes Gutenberg-Universität Mainz

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Future electronic components to be printed like newspapers

A new manufacturing technique uses a process similar to newspaper printing to form smoother and more flexible metals for making ultrafast electronic devices.

The low-cost process, developed by Purdue University researchers, combines tools already used in industry for manufacturing metals on a large scale, but uses...

Im Focus: First evidence on the source of extragalactic particles

For the first time ever, scientists have determined the cosmic origin of highest-energy neutrinos. A research group led by IceCube scientist Elisa Resconi, spokesperson of the Collaborative Research Center SFB1258 at the Technical University of Munich (TUM), provides an important piece of evidence that the particles detected by the IceCube neutrino telescope at the South Pole originate from a galaxy four billion light-years away from Earth.

To rule out other origins with certainty, the team led by neutrino physicist Elisa Resconi from the Technical University of Munich and multi-wavelength...

Im Focus: Magnetic vortices: Two independent magnetic skyrmion phases discovered in a single material

For the first time a team of researchers have discovered two different phases of magnetic skyrmions in a single material. Physicists of the Technical Universities of Munich and Dresden and the University of Cologne can now better study and understand the properties of these magnetic structures, which are important for both basic research and applications.

Whirlpools are an everyday experience in a bath tub: When the water is drained a circular vortex is formed. Typically, such whirls are rather stable. Similar...

Im Focus: Breaking the bond: To take part or not?

Physicists working with Roland Wester at the University of Innsbruck have investigated if and how chemical reactions can be influenced by targeted vibrational excitation of the reactants. They were able to demonstrate that excitation with a laser beam does not affect the efficiency of a chemical exchange reaction and that the excited molecular group acts only as a spectator in the reaction.

A frequently used reaction in organic chemistry is nucleophilic substitution. It plays, for example, an important role in in the synthesis of new chemical...

Im Focus: New 2D Spectroscopy Methods

Optical spectroscopy allows investigating the energy structure and dynamic properties of complex quantum systems. Researchers from the University of Würzburg present two new approaches of coherent two-dimensional spectroscopy.

"Put an excitation into the system and observe how it evolves." According to physicist Professor Tobias Brixner, this is the credo of optical spectroscopy....

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Leading experts in Diabetes, Metabolism and Biomedical Engineering discuss Precision Medicine

13.07.2018 | Event News

Conference on Laser Polishing – LaP: Fine Tuning for Surfaces

12.07.2018 | Event News

11th European Wood-based Panel Symposium 2018: Meeting point for the wood-based materials industry

03.07.2018 | Event News

 
Latest News

A smart safe rechargeable zinc ion battery based on sol-gel transition electrolytes

20.07.2018 | Power and Electrical Engineering

Reversing cause and effect is no trouble for quantum computers

20.07.2018 | Information Technology

Princeton-UPenn research team finds physics treasure hidden in a wallpaper pattern

20.07.2018 | Materials Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>