Articles tagged with Fragile X Syndrome
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.
A new study suggests that men over 50 with unexplained ataxia or tremors should undergo testing to check if they have the FMR1 gene, which causes Fragile X-related disorder. The guidelines were developed after a multi-center study found 56 people had received prior diagnoses of other conditions before being correctly diagnosed with FXTAS.
Researchers identify FMRP RNA ligands containing 'kissing complex' motifs, redirecting search for disease targets. The study also reveals a crucial link between FMRP, mRNA translation regulation and neurologic dysfunction in Fragile X syndrome.
Researchers found that lithium-based drugs restored normal courtship behavior in mutant fruit flies with Fragile X syndrome, suggesting a potential new approach to treating the condition. The study also identified metabotropic glutamate receptor hyperactivity as a key contributor to the disease's symptoms.
Fragile X Syndrome may be caused by altered nerve cell growth and connectivity. Neurons lacking the protein exhibit increased complexity, while those overexpressing it are simplified.
Researchers discovered that a small mutation in the fragile X gene causes tremors, balance problems, and dementia in older men. Genetic screening is recommended for men with these symptoms, especially those carrying the premutation, to accurately diagnose and treat Fragile X-Associated Tremor/Atxa Syndrome (FXTAS).
Researchers have found the same gene responsible for fragile X syndrome, a developmental disorder in children, also causes Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) in male carriers, leading to neurodegenerative symptoms. The study aims to develop therapies for both conditions.
Research suggests that postnatal experiences can affect brain development and function in individuals with Fragile X syndrome, a genetic disorder causing mental retardation, and schizophrenia, a severe emotional disorder. Abnormalities in synaptic pruning processes and neurotransmitter regulation are common to both conditions.
A new tool called APRA allows for detailed analysis of mRNA molecules in intact cells, revealing key interactions with the Fragile X Mental Retardation Protein (FMRP). The study provides a potential approach to develop new treatments for Fragile X syndrome, a genetic disorder that affects mental development.
Researchers developed Antibody Positioned RNA Amplification (APRA) to analyze RNA binding proteins, identifying mRNAs encoding proteins involved in signal transmission and neuron maturation. The technique has great potential for targeting specific RNA binding proteins and studying disease states.
A new study evaluates CX516, an Ampakine compound, to enhance glutamate transmission in the brain for fragile X syndrome and autism. The trial aims to improve cognitive deficits associated with these diseases.
Researchers at Emory University Health Sciences Center have identified specific genes in the brain associated with Fragile X Syndrome, a genetic disorder causing mental retardation and related problems. The study used DNA microarray technology to discover 251 dysregulated mRNAs in cells from patients with fragile X syndrome.
Researchers at Rockefeller University have discovered that FMRP controls the fate of specific proteins in brain cells, explaining the physical, cognitive, and behavioral abnormalities characteristic of fragile X syndrome. The findings offer potential for future therapies to lessen the disease's impact.
The Emory University Fragile X Group will investigate molecular, neurological, and biochemical approaches to clarify the fragile X syndrome, a cause of inherited mental retardation in humans. The team aims to develop model systems and explore potential therapeutic strategies.
Researchers at Emory University report a link between mental stress and cardiovascular damage. They suggest that chronic stress can lead to inflammation and oxidative stress, ultimately damaging the heart. The study's findings have implications for understanding the causes of cardiovascular disease in individuals with fragile X syndrome.