Articles tagged with Fragile X Syndrome
A new study reveals that fragile X proteins FMRP and FXR2P play a vital role in the maturation of newly formed adult neurons. Mice lacking FXR2P had impaired learning and memory tasks, suggesting potential therapeutic targets for fragile X syndrome and autism. The study's findings also highlight the importance of fostering new nerve ce...
The Azrieli Foundation donated $10 million to fund groundbreaking stem cell and genetic research at the Hebrew University of Jerusalem's newly inaugurated center. Researchers will focus on developing therapies for Down syndrome, Prader-Willi syndrome, and Fragile X syndrome, among other conditions.
Researchers have discovered a unique case of fragile X syndrome with only two classic symptoms, allowing them to identify a previously unknown function of the gene. The study suggests that drugs recently tested as treatments for fragile X may be ineffective due to overactive transmitters.
A new study by UC Irvine neurobiologists suggests that multiple, short learning sessions can strengthen memory formation in fragile X syndrome. Trained using this method, fragile X model mice performed as well on memory tests as normal mice.
Researchers identify chemical pathway disrupting behaviour in Fragile X patients and find potential treatment using cancer drug cercosporamide. The drug blocks the pathway, improving sociability in mice with the condition.
Researchers at UMass Chan Medical School will explore the molecular basis of Fragile X syndrome, a genetic disorder affecting 1 in 4,000 males and females. They aim to identify therapeutic targets by investigating three molecules that slow down mRNA translation in mice.
A single nucleotide change in the FMR1 gene near its replication origin may cause fragile X syndrome by inactivating DNA replication. This substitution leads to increased risk of repeat expansions, resulting in intellectual disability.
Boys with fragile X syndrome exhibit a relative strength in socialization skills compared to communication and daily living skills, which decline over time. The study's findings suggest that continued attention to adaptive behavior is crucial for individuals with fragile X syndrome.
Fragile X syndrome is caused by the absence of FMRP protein, which regulates cell machinery responsible for producing functional proteins. The study found that FMRP binds directly to ribosomes in cells, regulating protein expression and providing insights into potential novel therapies.
Researchers at UC Davis identified an association between the progressive neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS) and the formation of R-loops, which may be associated with the disorder's neurological symptoms. The study suggests that R-loops could be potential targets for drug development.
Researchers have developed a new test that can detect fragile X-associated tremor/ataxia syndrome (FXTAS), a condition similar to Parkinson's disease, in individuals as young as 30 years old. The study found that brain abnormalities associated with FXTAS may begin to develop about two decades before symptoms occur.
Researchers discovered that an RNA binding mechanism causes fragile X syndrome to occur when there are 200 or more CGG repeats in the gene. A drug that blocks this silencing mechanism can prevent fragile X syndrome, suggesting similar therapy is possible for other diseases.
Scientists at UMass Chan Medical School discovered that knocking out a gene important for mRNA translation restores memory deficits and reduces behavioral symptoms in a mouse model of Fragile X syndrome. The study suggests that the prime cause of the disease may be a translational imbalance, and restoration of this balance may be neces...
Khaleel Razak's research aims to develop therapies for age-related hearing problems and Fragile X Syndrome by studying how the brain processes everyday sounds. His lab will investigate neural computations that generate cortical maps underlying sound localization behavior in the pallid bat.
A team of scientists has discovered that a toxic protein, FMRpolyG, is made in an abnormal way due to a gene mutation, leading to Fragile X-associated Tremor Ataxia Syndrome (FXTAS). This unusual translation process, known as RAN translation, may hold the key to better treatments for older adults with the condition.
Researchers have discovered a new therapy for fragile X chromosome syndrome by modulating the cerebral endocannabinoid system. The treatment has shown promise in normalizing cognitive alterations and sensitivity to pain in genetically modified mice, suggesting a potential new strategy for treating patients with FXS.
Children with fragile X syndrome showed significant improvements in general behavior, anxiety, and mood-related behaviors after three months of minocycline treatment. The study provides evidence for the efficacy of minocycline as a targeted treatment for fragile X syndrome.
MIND Institute researchers will examine whether children and youth with fragile X syndrome can improve their working memory, cognition, and behavior using an online computer-based cognitive training program. The four-year study aims to determine the efficacy of this intervention in improving working memory skills and potentially behavior.
Researchers have discovered a higher frequency of the fragile X genetic defect in newborns than previously believed, with an estimated prevalence of 1 in 200 females and 1 in 400 males. The study's findings suggest that large-scale newborn screening for the defect is technically feasible using blood spots from infant heel pricks.
A collaborative research effort has pinpointed the genetic footprint that links fragile X syndrome and autism. The findings identify at least 93 genes controlled by the fragile X mental retardation protein, which are also linked to other neurologic syndromes.
A new study has identified a potential therapeutic mechanism for Fragile X syndrome, which is the most common heritable form of autism and intellectual disability. Researchers have found that blocking the serotonin 7 receptor may reverse synaptic plasticity in mice with FXS, suggesting a new approach to treatment.
Researchers at UCI found compounds that inhibit enzymes blocking endocannabinoid transmitters, which can help correct behavioral issues related to fragile X syndrome. The study suggests a new approach for treating anxiety and cognitive defects in people with the condition.
Researchers found a medication to be effective in addressing social withdrawal and challenging behaviors in fragile X syndrome patients. The study suggests potential implications for individuals with autism spectrum disorder, who also experience significant social deficits.
A clinical trial found that arbaclofen improved symptoms of social withdrawal and challenging behaviors in individuals with fragile X syndrome. The study suggests the compound may also be effective for autism spectrum disorder, offering new hope for treatment options.
STX209 treatment corrects core aspects of FXS pathophysiology, improving social function in patients. The drug has the potential to significantly improve lives of patients with fragile X syndrome and may also have a positive effect on autism spectrum disorders.
Researchers have designed a compound that shows promise as a potential therapy for fragile X syndrome, a genetic condition causing mental retardation, infertility, and memory impairment. The molecule improves RNA splicing process and minimizes repeat-associated defects in cells.
Researchers discovered a high prevalence of fragile X gene premutations among US population participants, indicating potential neurological and reproductive health risks. The study found that carriers of the faulty gene had a higher probability of experiencing symptoms such as numbness, dizziness, and early menopause.
A recent study reverses many Fragile X syndrome symptoms in adult mice using a new compound CTEP. The study found that pharmacologic inhibition of mGlu5 receptor can correct FXS symptoms, including learning and memory deficits and auditory hypersensitivity.
Researchers identify FMRP protein as key player in RNA editing, a process that regulates neural activity. Flies with mutated dFMR1 genes exhibit similar symptoms to humans with Fragile X, including memory and cognitive deficits.
Researchers have identified key mRNA molecules that the Fragile-X mental retardation protein binds to in brains of mice, suggesting new avenues for treating intellectual disability and autism. The study also proposes two possible treatment strategies: lowering specific protein activity or replacing FMRP's ability to regulate translation.
A new study by UW-Madison sleep researchers found that fruit flies with enriched learning environments need more sleep due to increased synaptic growth. The study suggests that sleep is driven by the need to reduce brain energy needs, providing structural evidence for the theory of synaptic homeostasis.
Researchers at Emory University School of Medicine have discovered a potential mechanism that may contribute to the link between epilepsy and fragile X syndrome. The protein FMRP controls the production of a protein called Kv4.2, which regulates electrical signals in brain cells.
Researchers have observed improvements in eye contact, social interaction, and speech in adults and children with autism and Fragile X syndrome treated with acamprosate. Larger studies are needed to determine effectiveness and tolerability.
Dr. Stephen T. Warren, a world-renowned fragile X syndrome researcher, received the 2011 Lifetime Achievement Award in Genetics from the March of Dimes. His groundbreaking work identified the genetic abnormality responsible for this disorder and led to significant contributions to clinical settings.
Researchers at U-M Medical School have found a potential therapeutic target for the adult form of Fragile X Tremor Ataxia Syndrome by modifying brain changes associated with FXTAS, which is caused by overproduction of toxic mRNA.
A small drug company, Seaside Therapeutics, is developing potential treatments for Fragile X syndrome and autism with secret funding from an anonymous wealthy family. Two of its drugs show promise in clinical trials as treatments for these diseases.
A new survey study found that parents of children with fragile X syndrome reported improvements in language use, attention spans, and behavior after treatment with the antibiotic minocycline. The study suggests that minocycline may be a promising targeted treatment for fragile X, prompting further clinical trials.
Researchers have discovered a potential new treatment for fragile X syndrome by targeting phosphoinositide-3 (PI3) kinase inhibitors. These drugs can correct defects in neurons and restore normal protein production at synapses, suggesting improved learning and cognition in individuals with the condition.
Research reveals brain changes indicative of Fragile X syndrome can be seen in one to three year olds through MRI scans, continuing to evolve during childhood. This breakthrough provides potential targets for early intervention and monitoring of the effects of interventions on individuals with Fragile X syndrome.
A longitudinal study found that brains of young boys with fragile X syndrome differ from those without the condition, showing an overabundance of gray matter in certain regions and diminished presence in others. This knowledge can be used to monitor new therapies' effectiveness in restoring brain structure and function.
Researchers found that fragile X protein (FMRP) regulates adult neurogenesis, a process crucial for learning and memory. FMRP dysregulation leads to defective neural maturation and reduced new neurons, contributing to learning disabilities associated with fragile X syndrome.
A new study from Northwestern University has found that people with fragile X syndrome experience delayed development of the sensory cortex, leading to problems with brain wiring and tactile defensiveness. This delay may trigger a domino effect, causing further symptoms such as social withdrawal, hyperarousal, and anxiety.
Researchers identified critical phases in brain development that may be mistimed in people with Fragile X Syndrome, a leading known cause of autism. The study found these changes occur midway through a baby's development in the womb, which could inform the timing of effective treatments.
Researchers have discovered a developmental delay in the brain circuit that processes sensory information in mice with fragile X syndrome, which is associated with hypersensitivity and social withdrawal. This delayed development may contribute to the sensory processing deficits seen in humans with fragile X syndrome.
A clinical trial has begun testing a novel compound, STX107, that selectively targets the synaptic defect underlying Fragile X syndrome. The study aims to evaluate safety and tolerability in healthy volunteers, with potential progression to phase 2 trials in adults and pediatric safety assessments.
Researchers have developed a specific and quantitative method to measure FMRP protein levels, which is mutated in fragile X syndrome. This test will help correlate protein levels with clinical severity of the disease.
A pilot trial of fenobam has shown no adverse side effects in adult patients with Fragile X syndrome, with some participants experiencing calmed behavior, reduced hyperactivity, and anxiety. Further research is needed to confirm its potential as a treatment option for the genetic disorder.
UC Riverside-led researchers found that minocycline can mature dendritic spines in mice with Fragile X syndrome, leading to improved cognitive function and reduced anxiety. The study's findings have already impacted future therapies, including a new clinical trial in Toronto.
Fragile X protein FMRP suppresses protein production, but its mechanism was unclear. Researchers discovered that FMRP works with CYFIP1 to control protein production at synapses. Disruption of this regulation leads to diseases like Fragile X syndrome and Autism.
Scientists have identified nine molecules that reverse the features of fragile X syndrome in fruit flies, including deficits in learning centers and behavioral deficits. The screening also uncovered other neural pathways that may be targeted for drug therapy.
Researchers at UT Southwestern Medical Center uncovered the mechanism underlying Fragile X syndrome, affecting communication between brain cells. The study suggests targeting the acetylcholine system might provide an alternative to drugs targeting glutamate pathways.
Researchers have alleviated various abnormalities associated with fragile X syndrome by reducing the activity of a specific gene. The findings suggest that this approach may lead to treatment for the disorder, which affects brain structure and function, as well as causing mental retardation, epilepsy, and abnormal body growth.
Scientists have created a human embryonic stem cell line from an embryo with the fragile X mutation, revealing early events associated with the disease. The study suggests that preventing epigenetic modifications may help rescue abnormal cells, paving the way for new therapeutic strategies.
Researchers at UCI discovered how to reverse learning and memory problems in fragile X syndrome by adding brain-derived neurotrophic factor proteins. This discovery provides scientific foundation for possible therapies that allow increased learning and memory in individuals with the condition.
Researchers identify fundamental brain defect in fragile X syndrome and find a potential drug target using a therapy that reverses the effects of the mutation. The discovery could lead to human therapies for this previously untreatable condition.
Fragile X tremor/ataxia syndrome (FXTAS) is a recently identified neurological disorder affecting middle-aged adults, causing Parkinson's-like symptoms and cognitive decline. Researchers discovered that the mutation causing FXTAS triggers a failure of messenger RNA transport within neurons, leading to lethal clogging of brain cells.
A new neurodegenerative syndrome, fragile X-associated tremor/ataxia syndrome, has been identified as triggered by the interplay of two proteins binding to messenger RNA. Individuals with this condition exhibit higher levels of mRNA and experience tremors, balance issues, and difficulty with daily activities.
Researchers identify pur alpha protein as key player in FXTAS, a neurodegenerative disorder caused by CGG repeats in the FMR1 gene. The protein's sequestration leads to toxic brain aggregates and movement problems.
Researchers found that exposing Fragile X knockout mice to an enriched environment restored normal neuronal plasticity and increased synaptic strength in the prefrontal cortex. This suggests that stimulating environments can facilitate the development of synaptic plasticity in cortical areas involved in higher cognitive function.
Fragile X syndrome is caused by a defect in the Fmr1 gene, which produces a nonfunctioning protein. Researchers found that mice lacking this gene only in specific neurons showed deficits in a motor learning task. The study also revealed abnormalities in signaling connections and dendrites of Purkinje cells in the cerebellum.