PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Answers to a rare and tragic form of epilepsy

A new study offers critical insight into the biochemistry of a rare and fatal form of epilepsy known as Lafora disease, a genetic condition that typically strikes children in their teens

2011-03-02
(Press-News.org) A new study offers critical insight into the biochemistry of a rare and fatal form of epilepsy known as Lafora disease, a genetic condition that typically strikes children in their teens. The disease is characterized by the buildup of a "wrecked" form of glycogen, a stored form of glucose, in the brain and specifically in neurons. It now appears those errors and the structural problems they cause are all because the enzyme that normally builds glycogen is prone to making mistakes, according to the report in Cell Metabolism.

That enzyme, known as glycogen synthase, usually tacks on glucose molecules, but every so often it will incorporate a stray phosphate molecule instead. Most of us depend on another enzyme called laforin to fix those errors. In people with Lafora disease, many of whom carry a mutated version of laforin, those phosphate molecules are allowed to accumulate, producing what Peter Roach of Indiana University School of Medicine refers to as "glycogen gone wrong" and the formation of deposits called Lafora bodies in many organs and, most devastatingly, in neurons.

"We view this as a catalytic error," Roach said. "The mistake is damaging enough that a mechanism is in place to get rid of it." Roach compares this metabolic correction mechanism to the repair processes that have evolved to correct errors in DNA synthesis.

Glycogen molecules can be extremely large and those molecules are constantly degraded and rebuilt, he explained. As a result, phosphate levels can build until they affect the overall chemical properties of the glycogen. That explains why symptoms of the disease take time to appear. Symptoms of Lafora disease typically set in during the teenage years. The epileptic condition and its neurological symptoms then grow progressively worse, usually leading to death in about 10 years time.

Earlier studies had shown that glycogen phosphate could be released by laforin and that excessive phosphate accumulation in glycogen affected the structure and properties of glycogen. Roach and his colleagues set out to work out the additional molecular details.

Their first question was how the phosphate gets into glycogen in the first place. They suspected there might be a special enzyme responsible, but instead found that glycogen synthase is the source of the problem. That enzyme mistakenly incorporates phosphate at a rate of about one phosphate per 10,000 glucoses. Roach's team also found exactly where it is on the glycogen molecule that those phosphates land, a feat that he says was rather difficult to do given that phosphate is such a rare constituent in the molecule.

The work exemplifies the importance of very basic science for discoveries that can be clinically relevant. "The real key is finding glycogen synthase is responsible for introducing the phosphate," Roach says.

It might be possible to limit the activity of glycogen synthase specifically in the brain, he continued. While one would want to be careful not to disrupt that enzyme in other parts of the body, earlier studies have shown that mice lacking glycogen in their brains altogether appear to function normally.

"Therefore," the researchers write in conclusion, "selective inhibition of brain glycogen synthase might provide a viable therapeutic intervention in Lafora disease, for which there is currently no effective treatment."

As for the future, Roach said that there is a second gene that can also lead to Lafora disease and his group intends work out the underlying mechanisms there as well.

INFORMATION:

END



ELSE PRESS RELEASES FROM THIS DATE:

For some kids, corneal transplant improves vision and daily life

2011-03-02
SAN FRANCISCO–Teens, children, and even infants sometimes require corneal transplants, although most such surgeries are performed in adults. Australian researchers led by Keryn A. Williams, PhD, tracked transplant success and visual outcomes in 640 young patients who received new corneas between 1985 and 2009 and report on their work in the March issue of Ophthalmology, the journal of the American Academy of Ophthalmology. Dr. Williams' team found that the highest rate of transplant success occurred in adolescent patients treated for keratoconus. About 86 percent of transplants ...

DREADD-ing your next meal

2011-03-02
In the face of the growing obesity epidemic, much research has focused on the neuronal control of feeding behavior. Agouti-related protein (AgRP) neurons express three proteins that have been implicated in changes in energy balance, but the studies linking AgRP neurons to feeding behavior have produced mixed results. To directly analyze the role of AgRP neurons, Bradford Lowell and colleagues, at Beth Israel Deaconess Medical Center in Boston, used DREADD technology (designer receptors exclusively activated by designer drugs) to specifically control the activation and ...

Gene variations associated with risk of type 2 diabetes

2011-03-02
For individuals of white European descent, certain variations of the gene HMGA1 are associated with type 2 diabetes mellitus, according to a study in the March 2 issue of JAMA. Type 2 diabetes mellitus (DM) is a common metabolic disorder that affects nearly 250 million people worldwide, and is associated with major diabetes-related complications, including retinopathy, kidney disease and cardiovascular disease. Insulin resistance in muscle, liver, and fat tissue is a major feature of most patients with type 2 DM. There is considerable evidence that heredity is a major ...

Nitric oxide does not appear to improve treatment of sickle cell pain-attacks

2011-03-02
Among patients with sickle cell disease, treatment of a vaso-occlusive crisis (characterized by episodes of severe pain) in the hospital with inhalation of nitric oxide gas for up to 3 days did not result in a shorter time to resolution of the pain, compared to patients who received placebo, according to a study in the March 2 issue of JAMA. Vaso-occlusive crisis (VOC) is common among patients with sickle cell disease (SCD), with an average length of hospitalization during VOC of 4.5 days for children ages 10 to 14 years. As many as 20 percent of patients hospitalized ...

A small subset of normal white blood cells gives rise to a rare leukemia, study shows

2011-03-02
COLUMBUS, Ohio – New research has identified a small subset of normal white blood cells in the body that gives rise to a rare incurable form of leukemia. The study, led by investigators at The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James), shows that large granular lymphocyte leukemia can occur in a small subset of white blood cells called NKT cells. NKT cells share features of immune cells called T lymphocytes and features of immune cells called natural killer (NK) cells. ...

Gene variants in autism linked to brain development

2011-03-02
New research on the genomics of autism confirms that the genetic roots of the disorder are highly complicated, but that common biological themes underlie this complexity. In the current study, researchers have implicated several new candidate genes and genomic variants as contributors to autism, and conclude that many more remain to be discovered. While the gene alterations are individually very rare, they mostly appear to disrupt genes that play important functional roles in brain development and nerve signaling. While an association between genomic variants in certain ...

Shark tracking reveals impressive feats of navigation

Shark tracking reveals impressive feats of navigation
2011-03-02
Some shark species are able to navigate to specific locations up to 50km away, a new study published in the British Ecological Society's Journal of Animal Ecology has found. Re-analysing tracking data from tagged sharks, ecologists found that while some species such as blacktip reef sharks swim in a pattern known as a "random walk", others such as tiger sharks can at times hunt for prey or mates by using "directed walks", accurately navigating long distances across open ocean, often at night. To maximise lifetime fitness, animals should optimise search patterns for finding ...

New generation of optical integrated devices for future quantum computers

New generation of optical integrated devices for future quantum computers
2011-03-02
A research group led by scientists from the University of Bristol has demonstrated the quantum operation of new components that will enable compact circuits for future photonic quantum computers. Quantum computers, holding the great promise of tremendous computational power for particular tasks, have been the goal of worldwide efforts by scientists for several years. Tremendous advances have been made but there is still a long way to go. Building a quantum computer will require a large number of interconnected components – gates – which work in a similar way to the ...

Study finds nitric oxide does not help sickle cell pain crisis

2011-03-02
Inhaling nitric oxide gas does not reduce pain crises or shorten hospital stays in people living with sickle cell disease, according to the results of a new study sponsored by the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health. "Nitric Oxide for Inhalation in the Acute Treatment of Sickle Cell Pain Crisis," will be published in the March 2 issue of the Journal of the American Medical Association. Sickle cell disease is an inherited disorder affecting between 70,000 and 100,000 Americans. The disease causes red blood cells, which ...

Cannabis use precedes the onset of psychotic symptoms in young people

2011-03-02
Cannabis use during adolescence and young adulthood increases the risk of psychotic symptoms, while continued cannabis use may increase the risk for psychotic disorder in later life, concludes a new study published on bmj.com today. Cannabis is the most commonly used illicit drug in the world, particularly among adolescents, and is consistently linked with an increased risk for mental illness. However, it is not clear whether the link between cannabis and psychosis is causal, or whether it is because people with psychosis use cannabis to self medicate their symptoms. So ...

LAST 30 PRESS RELEASES:

Final day of scientific sessions reveals critical insights for clinical practice at AAO-HNSF Annual Meeting and OTO EXPO

Social adversity and triple-negative breast cancer incidence among black women

Rapid vs standard induction to injectable extended-release buprenorphine

Galvanizing blood vessel cells to expand for organ transplantation

Common hospice medications linked to higher risk of death in people with dementia

SNU researchers develop innovative heating and cooling technology using ‘a single material’ to stay cool in summer and warm in winter without electricity

SNU researchers outline a roadmap for next-generation 2D semiconductor 'gate stack' technology

The fundamental traditional Chinese medicine constitution theory serves as a crucial basis for the development and application of food and medicine homology products

Outfoxed: New research reveals Australia’s rapid red fox invasion

SwRI’s Dr. Chris Thomas named AIAA Associate Fellow

National Collegiate Athletic Association (NCAA) funding for research on academic advising experiences of Division I Black/African American student-athletes at minority serving institutions

Johri developing artificial intelligence literacy among undergraduate engineering and technology students

Boston Children’s receives a $35 million donation to accelerate development of therapeutic options for children with brain disorders through the Rosamund Stone Zander and Hansjoerg Wyss Translational

Quantum crystals offer a blueprint for the future of computing and chemistry

Looking beyond speech recognition to evaluate cochlear implants

Tracking infectious disease spread via commuting pattern data

Underweight children cost the NHS as much per child as children with obesity, Oxford study finds.

Wetland plant-fungus combo cleans up ‘forever chemicals’ in a pilot study

Traditional Chinese medicine combined with peginterferon α-2b in chronic hepatitis B

APS and SPR honor Dr. Wendy K. Chung with the 2026 Mary Ellen Avery Neonatal Research Award

The Gabriella Miller Kids First Data Resource Center (Kids First DRC) has launched the Variant Workbench

Yeast survives Martian conditions

Calcium could be key to solving stability issues in sodium-ion batteries

Can smoother surfaces prevent hydrogen embrittlement?

Heart rate changes predict depression treatment success with magnetic brain stimulation

Genetics pioneer transforms global depression research through multi-omics discoveries

MDMA psychiatric applications synthesized: Comprehensive review examines PTSD treatment and emerging therapeutic indications

Psychedelics offer new therapeutic framework for stress-related psychiatric disorders

Brain cell discoveries reshape understanding of psychiatric disorders

Mom’s voice boosts language-center development in preemies’ brains, study finds

[Press-News.org] Answers to a rare and tragic form of epilepsy
A new study offers critical insight into the biochemistry of a rare and fatal form of epilepsy known as Lafora disease, a genetic condition that typically strikes children in their teens