Research by Topic: Fragile X

Tuberous Sclerosis, Fragile X Share immune Changes

Published May 6, 2014 in Simons Foundation Autism Research Initiative

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.

http://sfari.org/news-and-opinion/in-brief/2014/genetics-tuberous-sclerosis-fragile-x-share-immune-changes

Filed under: , , , ,


Most People Who Work with Special-Needs Children Lack Knowledge About Fragile X

Published September 13, 2013 in Simons Foundation Autism Research Initiative

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.

http://sfari.org/news-and-opinion/blog/2013/fragile-facts

Filed under: , , , ,


Genetic Discovery Links Autism and Schizophrenia

Published August 4, 2013 in Nature Neuroscience

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

http://www.nature.com/neuro/journal/vaop/ncurrent/full/nn.3484.html

Filed under: , , , , , ,


FMR1 Knockout Mice Observed to have Hyperactive Neural Firing Rates

Published June 2, 2013 in Nature: Neuroscience

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.

http://www.nature.com/neuro/journal/vaop/ncurrent/full/nn.3415.html

Filed under: , , , , , , ,


Fragile X Mutation May Produce Toxic Protein Clumps That Cause FXTAS

Published May 8, 2013 in Neuron

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.

http://www.ncbi.nlm.nih.gov/pubmed/23602499

Filed under: , , , , , ,


SFARI: Studies Show Promise for Fragile X Treatment

Published April 25, 2013 in SFARI

http://sfari.org/news-and-opinion/news/2013/studies-show-promise-for-fragile-x-treatment

Filed under: , , , , ,


Astroglial FMRP-Dependent Translational Down-regulation of mGluR5 Underlies Glutamate Transporter GLT1 Dysregulation in the Fragile X Mouse

Published 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.

http://hmg.oxfordjournals.org/content/early/2013/02/07/hmg.ddt055.abstract

Filed under: , , , , , ,


FMRP Targets Distinct mRNA Sequence Elements to Regulate Protein Expression

Published December 12, 2012 in Nature

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.

http://www.nature.com/nature/journal/vaop/ncurrent/full/nature11737.html

Filed under: , , , , , ,


Next-Generation Treatments for Fragile X Syndrome

Published November 29, 2012 in Science Daily

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

http://www.sciencedaily.com/releases/2012/11/121129093331.htm

Filed under: ,


Progress in Identifying the Genetic Roots of Autism

Published September 25, 2012 in Wall Street Journal

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

http://online.wsj.com/article/SB10000872396390444813104578016280501020620.html

Filed under: , , , ,


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 Trial

Filed under: , , , , ,


Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: a Randomized, Controlled, Phase 2 Trial

Published 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.

http://www.ncbi.nlm.nih.gov/pubmed/

Filed under: , , ,


Arboclofen Has Potential to Improve Social Function and Behavior in Patients with Fragile X Syndrome

Published 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.

http://www.ncbi.nlm.nih.gov/pubmed/22993294

Filed under: , , , ,


Cognition and behavior: Fragile X Carriers Show Autism Signs

Published July 27, 2012 in Simons Foundation Austism Research Initiative

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.

http://sfari.org/news-and-opinion/in-brief/2012/cognition-and-behavior-fragile-x-carriers-show-autism-signs

Filed under: , , , , , ,


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

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

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

http://www.marketwatch.com/story/roche-seaside-to-research-autism-treatments-2012-06-19?reflink=MW_news_stmp

Filed under: , ,


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

Published June 6, 2012 in UNC School of Medicine

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.

http://news.unchealthcare.org/news/2012/june/brain-cell-activity-imbalance-may-account-for-seizure-susceptibility-in-angelman-syndrome

Filed under: , , , , , ,


Special Report: New Drugs, Fresh Hope for Autism Patients

Published May 31, 2012 in Reuters

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.

http://www.reuters.com/article/2012/05/31/us-usa-autism-drugs-idUSBRE84U0II20120531

Filed under: , , ,


Clinical trials of new treatments for Fragile X are accepting participants

Published March 22, 2012 in FRAXA Research Foundation

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

Clinical trials of new treatments for Fragile X are accepting participants

Filed under: , , ,


Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result

Published November 25, 2011 in Medical News Today

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.

Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result

Filed under: , , , , , ,


Mutations Causing Syndromic Autism Define an Axis of Synaptic Pathophysiology

Published November 23, 2011 in Nature

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 […]

http://www.ncbi.nlm.nih.gov/pubmed/22113615

Filed under: ,


How Brain’s Structure And Genes Affect Autism And Fragile X Syndrome

Published November 17, 2011 in Medical News Today

Research just released shows that scientists are finding new tools to help understand neurodevelopmental disorders like autism and fragile X syndrome.

How Brain's Structure And Genes Affect Autism And Fragile X Syndrome

Filed under: , , , , ,


Study In Fruit Flies Has Implications For Autism, Other Cognitive Impairment Syndromes

Published November 1, 2011 in Medical News Today

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…

http://www.medicalnewstoday.com/releases/236836.php

Filed under: , , , ,


Institute For Basic Research in New York seeking adults with Fragile X for New Clinical Trial

Published October 17, 2011 in October 17, 2011

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.

Filed under: , , , ,


Protein Interactome Reveals Converging Molecular Pathways

Published June 8, 2011 in Science Translational Medicine

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. […]

http://www.ncbi.nlm.nih.gov/pubmed/21653829

Filed under: , , ,


Study Shows Promise For New Drug To Treat Fragile X

Published January 8, 2011 in Science Daily

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.

http://www.medicalnewstoday.com/articles/213154.php

Filed under: , ,


U-M Researchers Discover Way to Block Neurodegeneration in an Adult Form of Fragile X Syndrome

Published December 14, 2010 in Genetic Engineering & Biotechnology News

http://www.genengnews.com/industry-updates/u-m-researchers-discover-way-to-block-neurodegeneration-in-an-adult-form-of-fragile-x-syndrome/103679573/

Filed under: , ,


Better Way Developed to See Molecules at Work in Living Brain

Published October 12, 2010 in Science Daily

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.

http://www.sciencedaily.com/releases/2010/10/101007151212.htm

Filed under: , , ,


Fraxa News: Minocycline Trial Results Published

Published October 12, 2010 in Fraxa Research Foundation

http://fraxa.org/newsrelease10.aspx?utm_content=asinger%40autismsciencefoundation.org&utm_source=VerticalResponse&utm_medium=Email&utm_term=More+on+the+minocycline+study&utm_campaign=News%3A+Fragile+X+trial+of+Minocycline+publishedcontent

Filed under:


Minocycline Promising in Fragile X Syndrome

Published September 7, 2010 in Medscape Today

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.

http://www.medscape.com/viewarticle/728141?src=emailthis

Filed under: , , , , , , , , ,


Cambridge’s Seaside at Forefront of new approach to Fragile X

Published August 23, 2010 in The Boston Globe

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.

http://www.boston.com/business/healthcare/articles/2010/08/23/cambridges_seaside_has_new_approach_to_fragile_x/

Filed under: , ,


Scientists Identify New Drug Strategy Against Fragile X Syndrome

Published August 10, 2010 in Science Daily

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.

http://www.sciencedaily.com/releases/2010/08/100810203501.htm?utm_source=feedburner&utm_medium=feed&utm_campaign=Feed%3A+sciencedaily+%28ScienceDaily%3A+Latest+Science+News%29

Filed under: , , , , ,


UT Southwestern researchers uncover fragile X syndrome gene’s role

Published May 7, 2010 in EurekAlert

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.

http://www.eurekalert.org/pub_releases/2010-05/usmc-usr050710.php

Filed under: , , ,


Fragile X: Translation in Action

Published December 31, 1969 in Neuropshcyopharmacology, Bear, Dolen et al

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 […]

http://www.ncbi.nlm.nih.gov/pubmed/17940551

Filed under: , , ,