Nutritional Supplement Offers Promise in Treatment of Unique Form of Autism

ScienceDaily (Sep. 6, 2012) — An international team of researchers, led by scientists at the University of California, San Diego and Yale University schools of medicine, have identified a form of autism with epilepsy that may potentially be treatable with a common nutritional supplement.

Roughly one-quarter of patients with autism also suffer from epilepsy, a brain disorder characterized by repeated seizures or convulsions over time. The causes of the epilepsy are multiple and largely unknown. Using a technique called exome sequencing, the UC San Diego and Yale scientists found that a gene mutation present in some patients with autism speeds up metabolism of certain amino acids. These patients also suffer from epileptic seizures. The discovery may help physicians diagnose this particular form of autism earlier and treat sooner.

The researchers focused on a specific type of amino acid known as branched chain amino acids or BCAAs. BCAAs are not produced naturally in the human body and must be acquired through diet. During periods of starvation, humans have evolved a means to turn off the metabolism of these amino acids. It is this ability to shut down that metabolic activity that researchers have found to be defective in some autism patients.

"It was very surprising to find mutations in a potentially treatable metabolic pathway specific for autism," said senior author Joseph G. Gleeson, MD, professor in the UCSD Department of Neurosciences and Howard Hughes Medical Institute investigator. "What was most exciting was that the potential treatment is obvious and simple: Just give affected patients the naturally occurring amino acids their bodies lack."

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New Stem Cell Found in Brain: Finding Could Be Key to Developing Methods to Heal and Repair Brain Injury and Disease

ScienceDaily (Apr. 20, 2012) — "Researchers at Lund University in Sweden have discovered a new stem cell in the adult brain. These cells can proliferate and form several different cell types -- most importantly, they can form new brain cells. Scientists hope to take advantage of the finding to develop methods to heal and repair disease and injury in the brain.
Analyzing brain tissue from biopsies, the researchers for the first time found stem cells located around small blood vessels in the brain. The cell's specific function is still unclear, but its plastic properties suggest great potential.

"A similar cell type has been identified in several other organs where it can promote regeneration of muscle, bone, cartilage and adipose tissue," said Patrik Brundin, M.D., Ph.D., Jay Van Andel Endowed Chair in Parkinson's Research at Van Andel Research Institute (VARI), Head of the Neuronal Survival Unit at Lund University and senior author of the study.

In other organs, researchers have shown clear evidence that these types of cells contribute to repair and wound healing. Scientists suggest that the curative properties may also apply to the brain. The next step is to try to control and enhance stem cell self-healing properties with the aim of carrying out targeted therapies to a specific area of the brain.

"Our findings show that the cell capacity is much larger than we originally thought, and that these cells are very versatile," said Gesine Paul-Visse, Ph.D., Associate Professor of Neuroscience at Lund University and the study's primary author. "Most interesting is their ability to form neuronal cells, but they can also be developed for other cell types. The results contribute to better understanding of how brain cell plasticity works and opens up new opportunities to exploit these very features."

The study, published in the journal PLoS ONE, is of interest to a broad spectrum of brain research. Future possible therapeutic targets range from neurodegenerative diseases to stroke."

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Study Could Lead to a Treatment for Angelman Syndrome

ScienceDaily (Dec. 21, 2011) — "Results of a new study from the University of North Carolina at Chapel Hill may help pave the way to a treatment for a neurogenetic disorder often misdiagnosed as cerebral palsy or autism.
Known as Angelman syndrome, or AS, its most characteristic feature is the absence or near absence of speech throughout the person's life. Occurring in one in 15,000 live births, other AS characteristics include intellectual and developmental delay, severe intellectual disability, seizures, sleep disturbance, motor and balance disorders. Individuals with the syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand flapping.
No effective therapies exist for AS, which arises from mutations or deletions of the gene Ube3a on chromosome 15. The Ube3a protein produced by the gene is a key component of a molecular pathway that is very important to all cells, especially brain neurons by helping them pass electrical or chemical signals to other neurons via the synapse.
Angelman syndrome is linked to mutations or deletions in the Ube3a gene inherited from the mother; thus, the maternal allele. In most tissues of the body, both the maternal and paternal alleles are expressed. But in rodents and humans, the paternal Ube3a allele is intact but silent, or dormant.
What apparently accounts for the dormancy of that allele is a strand of ribonucleic acid known as antisense RNA, which in terms of gene expression keeps paternal Ube3a silenced, or off. Once referred to as the genome's "dark matter," antisense RNA makes no functioning gene product, but works to repress expression of another gene by binding to its RNA.
"We wanted to determine if there could be a way to "awaken" the dormant allele and restore Ube3a expression in neurons," said neuroscientist Benjamin D. Philpot, PhD, associate professor of cell and molecular physiology, one of three senior investigators in the study and a member of the UNC Neuroscience Center.
In a report of the research published online Dec. 21, 2011 in the journal Nature, the interdisciplinary team of UNC scientists say they have found a way to "awaken" the paternal allele of Ube3a, which could lead to a potential treatment strategy for AS."
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New Drug Cures Multiple Viruses in Human Cells

Christine Dell'Amore, National Geographic News, Published August 22, 2011--

Single treatment can kill 15 virus types in 11 mammals, study shows.

There's no cure for the common cold—yet.

A new drug can scout out and kill numerous types of viruses infecting human and animal cells, researchers have announced. It's the first time a single drug has been shown to work against a range of viruses, from those that cause seasonal sniffles to more fatal diseases.
"Several decades ago the discovery and production of antibiotics revolutionized the way bacterial infections were treated," said study co-author Todd Rider, a senior staff scientist at the Massachusetts Institute of Technology's Lincoln Laboratory and Division of Comparative Medicine.

"We hope that this will similarly revolutionize the way viral infections are treated. That covers everything from cold and flu viruses to more serious clinical pathogens like HIV and hepatitis viruses and ultimately even more deadly viruses like Ebola and smallpox."
Though there are plenty of drugs to treat bacterial infections, there are few that can battle viruses. The antiviral drugs that have been developed are highly specific, with each drug targeting just one strain of a virus, which can easily mutate and become resistant to the medication.

So Rider and colleagues took a different approach—tailoring their new drug to work with the body's built-in defense mechanism.

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Most Common Form of Inherited Intellectual Disability May Be Treatable, Review Suggests

ScienceDaily (May 17, 2011) — "Advancements over the last 10 years in understanding intellectual disability (ID) have led to the once-unimaginable possibility that ID may be treatable, a review of more than 100 studies on the topic has concluded.
It appears in ACS Chemical Neuroscience.
Aileen Healy and colleagues explain that people long have viewed intellectual disability as permanent and untreatable, with medical care focusing on relieving some of the symptoms rather than correcting the underlying causes. That includes Fragile X syndrome (FXS), the most common inherited form of intellectual disability. FXS occurs in an array of forms, ranging from mild learning disabilities to more severe intellectual and developmental disabilities. It is the most common known cause of autism or autistic-like behaviors.
Scientists are now beginning to get a handle on the changes that happen to cells and molecules in the body because of a mutation in the Fragile X Mental Retardation 1 gene. That gene contains instructions for making a key protein vital for nerve function in the brain, and does not work properly in FXS. With a better understanding of the biological effects of the mutation, the scientists say that treatments for FXS and similar disorders now seem possible. In addition, several drugs tested in humans seem promising."
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First Drug to Treat Fragile X?

ScienceDaily (Jan. 9, 2011) — "The first drug to treat the underlying disorder instead of the symptoms of Fragile X, the most common cause of inherited intellectual disability, shows some promise, according to a new study published in the January issue of Science Translational Medicine. Researchers from Rush University Medical Center helped design the study and are now participating in the larger follow-up clinical trial.The data from the early trial of 30 Fragile X patients, found the drug, called AFQ056, made by Novartis Pharmaceuticals, helped improve symptoms in some patients. Patients who had the best response have a kind of "fingerprint" in their DNA that could act as a marker to determine who should get treatment.
"This is an exciting development. It is the first time we have a treatment targeted to the underlying disorder, as opposed to supportive treatment of the behavioral symptoms, in a developmental brain disorder causing intellectual disability. This drug could be a model for treatment of other disorders such as autism," said pediatric neurologist Dr. Elizabeth Berry-Kravis, a study author and director of the Fragile X Clinic and Research Program and the Fragile X-Associated Disorders Program at Rush."
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