Articles tagged with Rett Syndrome
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Researchers discovered that phosphorylation of MeCP2 at S421 increases transcription of genes required for experience-dependent brain maturation, including BDNF. This study reveals a complex regulatory loop between BDNF and neuronal activity in regulating MeCP2 function.
Researchers identified a key mechanism behind Rett Syndrome by pinpointing the S421 site on the MeCP2 protein responsible for its normal function. This specificity explains why mutations affecting that site target brain development, leading to delays in motor skills and speech loss.
Researchers confirm four new cases of Rett syndrome in boys with no family history, highlighting need for prenatal diagnosis and pediatrician awareness. The condition affects mostly females due to the presence of a single X chromosome, but its incidence may be higher than initially thought.
A study published in Neurology reports four cases of MECP2 gene mutations in infant males with progressive encephalopathy, challenging the assumption that these mutations are always lethal before birth. The researchers encourage neonatologists and pediatricians to consider MECP2 as a possible cause of severe neurological abnormalities.
Researchers have found that mutations in MECP2 lead to overproduction of Uqcrc1 protein in mitochondria, resulting in abnormal energy production and potentially causing Rett syndrome symptoms. The study provides a genetic link between MECP2 and mitochondrial function, offering new insights into the disorder.
Researchers have found that brain-derived neurotrophic factor (BDNF) can alleviate disease symptoms in a mouse model of Rett Syndrome. Increasing BDNF levels slowed down disease progression and improved mouse survival, suggesting potential therapeutic applications for the disorder.
Researchers have discovered a functional interaction between the genes MECP2 and BDNF, which could lead to new therapeutic opportunities for Rett syndrome patients. By modulating BDNF expression, it may be possible to delay or reverse disease progression.
Researchers have alleviated symptoms of Rett syndrome in mice by hyper-expressing the BDNF gene, which showed a drastic reduction in lethargy and improved cortical neuron activity. The findings may lead to potential therapeutic strategies for treating the condition.
Researchers discover that disturbances in norepinephrine levels lead to breathing problems in RTT mice. Increasing norepinephrine helps normalize breathing patterns, suggesting a potential therapeutic approach for the disorder.
The MECP2 gene, responsible for Rett syndrome, plays a multifunctional role in RNA processing, including transcriptional repression and splicing regulation. This discovery opens new avenues for understanding the disease and developing targeted therapies.
Researchers have made a crucial breakthrough in understanding Rett Syndrome by identifying the specific genetic targets involved in the disease. The discovery of an A-T stretch required for MeCP2 binding provides a key clue to finding new target genes.
A mouse model of Rett Syndrome displays reduced cortical activity, suggesting a primary cellular defect. The study found that the excitatory-inhibitory balance in the cortex is shifted towards inhibition, which may underlie cognitive, motor, and social symptoms in RTT.
Researchers found that MECP2 target gene DLX5 is overexpressed in RTT patients due to loss of silent chromatin looping and impaired imprinting. This misregulation leads to increased expression of GABA, a neurotransmitter essential for brain function.
Researchers found that mutated MeCP2 protein represses genes, specifically targeting imprinted genes like DLX5, leading to misregulation of neurotransmitter GABA production. The study links specific defects in chromatin folding to Rett Syndrome for the first time.
Rett Syndrome researchers successfully introduced the 'Rett protein' into post-mitotic neurons, reversing symptoms in mice. This breakthrough could pave the way for new treatments and potentially even cures for Rett Syndrome, a devastating neurological disorder primarily affecting girls.
A new form of the MECP2 protein has been discovered to be associated with Rett syndrome, a devastating neurological disorder affecting approximately 3,000 girls in the US. This breakthrough finding promises to aid in the diagnosis and treatment of Rett syndrome and other developmental disabilities.
Researchers have identified a novel form of the Rett syndrome protein, which is more abundant in human brain than previously thought. This discovery may provide insights into potential functional differences between the two proteins and help identify mutations in exon 1.
Researchers have identified a new form of the MECP2 gene associated with Rett syndrome, a genetic neurological disorder affecting mostly girls. The discovery suggests that a defective alternate form of the gene causes the disease, providing hope for improved diagnosis and treatment options.
A new form of the MeCP2 protein has been discovered, which may be more important in causing Rett Syndrome. The protein is found to be more abundant in the brain and its function must be understood to relate it to the disease symptoms.
A new study reveals that MeCP2, a protein implicated in Rett Syndrome, regulates brain-derived neurotrophic factor (BDNF), leading to symptoms. Researchers found that MeCP2 controls BDNF's 'off' state, but also enables its activation through temporary detachment.
Researchers have discovered that the protein MeCP2 regulates gene expression in normal central nervous system cells, and its mutation may be responsible for Rett Syndrome. The study also suggests that BDNF, a highly active gene, plays a key role in the disease.
Researchers created a mouse model of Rett syndrome to study the gene MECP2 and its role in fine-tuning the developing nervous system. The study may improve understanding of the disorder and lead to potential treatments for patients.
Researchers have identified the gene responsible for Rett syndrome, a condition that gradually robs girls of their language, mental functioning, and ability to interact with others. The discovery has immediate implications for diagnosis and treatment.