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Research by Topic: Fragile X
On this week’s podcast, data obtained from brains of people with autism is reused and re-analyzed so that a new role of mitochondria and their relationship to the activity of synapse genes could be discovered. In addition, cellular stress is seen in the brains of people with autism. What comes first? Mitochondrial dysfunction and cellular […]
Filed under: Autism, autism brainnet, brain tissue, Brown University, cellular stress, featured, Fragile X, FRAXA Research Foundation, genes, mitochondria, NeuroBioBank, NIH, podcast, research, Tuberous Sclerosis, Tuberous Sclerosis Alliance, UCLA
Two autism-related disorders fragile X syndrome and tuberous sclerosis complex share disruptions in the immune system despite major differences in the individual genes affected, reports a study in Molecular Autism. An abnormally regulated immune system is linked to some forms of autism, but exactly how genetic changes in the immune system contribute to autism is unclear.
According to a recent study in the journal Intellectual and Developmental Disabilities, most people who work with special-needs children lack basic knowledge about Fragile X syndrome, even though it is the leading cause of inherited intellectual disability. Most people studied did not know many of the symptoms of the syndrome or how best to support children with Fragile X syndrome.
Nelson Freimer and colleagues at UCLA studied a population in an isolated area of Finland where Schizophrenia is more common than in the average Finnish population. In this small group, it was discovered that the presence of a deletion on part of chromosome 22 was much more prevalent than in the rest of the population. This deleted region normally contains an enzyme, TOP3B. This lack of TOP3B is also linked to disruptions that can lead to Fragile X Syndrome, showing there may be a biological link between Fragile X and Schizophrenia. An article about this study can be found here:http://www.newscientist.com/article/dn23995-genetic-discovery-links-autism-and-schizophrenia.html#.UgJvzZJJNf2
Researchers at UCLA observed hyperactive firing rates in the brains of FMR1 knockout mice; mice engineered to have symptoms similar to those in ASD and Fragile X syndrome.
University of Michigan study finds that a mild form of the fragile X mutation produces protein clumps that may trigger fragile X-associated tremor/ataxia.
Astroglial FMRP-Dependent Translational Down-regulation of mGluR5 Underlies Glutamate Transporter GLT1 Dysregulation in the Fragile X MousePublished February 7, 2013 in Human Molecular Genetics
This paper discusses the role fragile X mental retardation protein (FMRP) plays in protein expression in astrocytes, and suggests that FMRP loss in astrocytes may contribute to the development of fragile X.
Researchers link Fragile X syndrome protein to 93 genes that have been implicated in ASD. Lead investigator says the findings may lead to more detailed genetic tests.
Researchers from University of Catania discover a possible new strategy for treating Fragile X syndrome.
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.Published September 19, 2012 in Science Translational Medicine
Arbaclofen, also known as STX209, shows promise in its treatment of social symptoms associated with fragile x syndrome.
Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: a Randomized, Controlled, Phase 2 TrialPublished September 19, 2012 in Sci Transl Med
Research on animal models of fragile X syndrome suggests that STX209, a GABA(B) agonist, might improve neuro-behavioral function in affected patients.
Arboclofen Has Potential to Improve Social Function and Behavior in Patients with Fragile X SyndromePublished September 9, 2012 in Science Translational Medicine
Research on animal models suggests that STX209 (arboclofen) might improve neurobehavioral function in patients affected with Fragile X Syndrome.
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 have entered an alliance to develop pharmacological treatments for autism spectrum disorders and Fragile X Syndrome.
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.
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.
Experimental new drugs, AFQ056 (an mGluR5 antagonist from Novartis) and STX209 (arbaclofen from Seaside Therapeutics) are in large scale trials.
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.
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 […]
Research just released shows that scientists are finding new tools to help understand neurodevelopmental disorders like autism and fragile X syndrome.
Loss of FMR1 function is the most common genetic cause of autism. Understanding how this gene works is vital to finding new treatments to help Fragile X patients and others…
The Institute for Basic Research in Staten Island is seeking adult participants for a new Fragile X treatment trial. This is a large scale trial of AFQ056 from Novartis for people aged 18-45 who have Fragile X. AFQ056 is an mGluR5 antagonist. The current study is just for adults but the next step is to extend the trial to ages 12-17. After completing the 20 week trial, participants will be offered the option of taking this medication free of charge until it comes to market.
A recent study sheds light on how a variety of different mutations in genes that seemingly have little in common can each result in the symptoms of autism. To answer this question, researchers developed a molecular map of protein networks or "interactome" to identify how proteins associated with ASD interact with hundreds of other proteins. […]
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.
By creating a better way to see molecules at work in living brain cells, researchers affiliated with MIT’s Picower Institute for Learning and Memory and the MIT Department of Chemistry are helping elucidate molecular mechanisms of synapse formation. These studies could also help further understanding of how synapses go awry in developmental diseases such as autism and Fragile X syndrome.
Filed under: Fragile X
Parents of children with fragile X syndrome report that minocycline led to positive improvements in language, attention levels and behavior. They also report experiencing adverse side effects such as mild gastrointestinal issues and some increased irritability.
The story of Matthew, a 9-year-old with Fragile X Syndrome, is one of the first patients on one of the first medications ever developed specifically to address the causes of an autism-like disorder. And at least for him it seems to be working.
Researchers at Emory University School of Medicine have identified a potential new strategy for treating fragile X syndrome — the most common inherited cause of intellectual disability. The researchers have found that a class of drugs called phosphoinositide-3 (PI3) kinase inhibitors can correct defects in the anatomy of neurons seen in a mouse model of fragile X syndrome.
Researchers at UT Southwestern Medical Center have discovered how the genetic mutation that causes Fragile X syndrome, the most common form of inherited mental retardation, interferes with the “pruning” of nerve connections in the brain. They found Fragile X is caused by a mutation in a single gene, Fmr1, on the X chromosome. The gene codes for a protein called FMRP, which plays a role in learning and memory but whose full function is unknown. The protein’s role in pruning nerve connections had been unclear.
Fragile X is a synapsopathy–a disorder of synaptic function and plasticity. Recent studies using mouse models of the disease suggest that the critical defect is altered regulation of synaptic protein synthesis. Various strategies to restore balanced synaptic protein synthesis have been remarkably successful in correcting widely varied mutant phenotypes in mice. Insights gained by the […]