Fragile X

Next-Generation Treatments for Fragile X Syndrome

Source: 
Science Daily
Date Published: 
November 29, 2012
Abstract: 

Researchers from University of Catania discover a possible new strategy for treating Fragile X syndrome.

Progress in Identifying the Genetic Roots of Autism

Source: 
Wall Street Journal
Date Published: 
September 25, 2012
Abstract: 

Genetic tests are beginning to shed light on the causes of some autism spectrum disorders.

Experimental Drug may Treat Social Withdrawal Symptoms in Individuals with Fragile X Syndrome, the Most Common Known Genetic Cause of Autism.

Source: 
Science Translational Medicine
Date Published: 
September 19, 2012
Abstract: 

Arbaclofen, also known as STX209, shows promise in its treatment of social symptoms associated with fragile x syndrome.

Cognition and behavior: Fragile X Carriers Show Autism Signs

Source: 
Simons Foundation Austism Research Initiative
Date Published: 
July 27,2012
Abstract: 

According to a study published in the American Journal of Medical Genetics, Women who have a milder version of the fragile X mutation, which can lead to the full mutation in their children, have some features of autism.

Roche and Seaside Therapeutics Enter Alliance to Develop Pharmacological Treatments for Autism

Source: 
http://www.marketwatch.com/story/roche-seaside-to-research-autism-treatments-2012-06-19?reflink=MW_news_stmp
Date Published: 
June 19, 2012
Abstract: 

Roche and Seaside Therapeutics have entered an alliance to develop pharmacological treatments for autism spectrum disorders and Fragile X Syndrome.

Seizures in Angelman Syndrome Could be Linked to an Imbalance in Brain Activity

Source: 
UNC School of Medicine
Date Published: 
June 6, 2012
Abstract: 

Researchers led by Dr. Ben Philpot, an ASF funded mentor, at UNC School of Medicine found that seizures in individuals with Angelman syndrome could be linked to an imbalance in brain cell activity. Angelman syndrome exhibits frequent comorbidity with autism spectrum disorders.

Special Report: New Drugs, Fresh Hope for Autism Patients

Source: 
Reuters
Date Published: 
May 31, 2012
Abstract: 

Researchers are conducting advanced trials of the first drugs expressly designed to correct the genetically induced signaling problems in the brain that result in autism. The early indications are positive enough to offer new hope for families and spark interest from drug companies.

Researchers are conducting advanced trials of the first drugs expressly designed to correct the genetically induced signaling problems in the brain that result in autism. The early indications are positive enough to offer new hope for families and spark interest from drug companies.

Clinical trials of new treatments for Fragile X are accepting participants

Source: 
FRAXA Research Foundation
Date Published: 
March 22, 2012
Abstract: 

Experimental new drugs, AFQ056 (an mGluR5 antagonist from Novartis) and STX209 (arbaclofen from Seaside Therapeutics) are in large scale trials.

Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result

Source: 
Medical News Today
Date Published: 
November 25, 2011
Abstract: 

In most cases, autism is caused by a combination of genetic factors, but some cases, such as Fragile X syndrome, can be traced to a variation in a single gene that causes overproduction of proteins in brain synapses. Now a new study led by the same MIT neuroscientist who made that discovery, finds that tuberous sclerosis is caused by a malfunction at the opposite end of the spectrum: underproduction of the synaptic proteins.

Mutations Causing Syndromic Autism Define an Axis of Synaptic Pathophysiology

Source: 
Nature
Date Published: 
November 23, 2011
Year Published: 
2011

New research reveals that two genetic forms of autism, fragile X syndrome and tuberous sclerosis, are actually caused by opposite malfunctions – while fragile X is caused by overproduction of proteins at the synapse, tuberous sclerosis is caused by underproduction. Interestingly, while the causes of fragile X and tuberous sclerosis are distinctly different, both disorders often result in intellectual disability and autism spectrum disorder. Researchers made the discovery while studying mGluR5 (Metabotropic glutamate receptor 5), a receptor on the surface of neurons that is key in aiding communication at the synapse – the junction between neurons. During normal signaling, the mGluR5 receptor binds to the neurotransmitter glutamate after it is released across the synapse, resulting in the production of new synaptic proteins. Fragile X protein (FMRP) halts protein synthesis to ensure that the appropriate amount is produced -- in fragile X syndrome, changes to the gene that controls FMRP allow synaptic proteins to continue production unchecked, resulting in too much protein. Researchers have previously shown that introducing a substance to block mGluR5 reverses some of the symptoms of fragile X, and human drug trials are currently underway. Armed with an understanding of the underlying causes of fragile X, researchers in this study examined mice with tuberous sclerosis mutations and discovered something surprising. In this case, the disorder was caused by the opposite malfunction – too little protein synthesis at the synapse, which could be treated with a drug stimulating mGluR5. Further, when the researchers bred the two mice together, many of their autistic features went away. The findings of the study indicate that proper brain function can only occur within a narrow range of mGluR5 protein synthesis – changes in either direction lead to syndromes with similar behavioral symptoms. This also suggests that drug treatments for autism spectrum disorder will need to be individually tailored, as conditions that appear similar may have quite different underlying causes.

--IACC 2011 Summary of Advances in ASD Research