Researchers used RNA editing to correct a genetic error causing Rett Syndrome, repairing half of the normal protein in three types of neurons. The approach shows promise for treating the disorder, which affects 350,000 individuals worldwide.
A study published in Nature reveals that MECP2 Duplication Syndrome can be reversed using an antisense oligonucleotide strategy. The therapy, tested on adult mice with the condition, normalized symptoms after four weeks and restored normal brain function.
Researchers found that mutations in MECP2 lead to increased expression of long genes, which are often greater than 100,000 nucleotides in length. This overexpression may be a distinctive signature of Rett Syndrome and related disorders.
A new gene therapy study, published in the Journal of Neuroscience, shows reversal of Rett symptoms in fully symptomatic mice by delivering a healthy MECP2 gene to cells throughout the body and brain. The treatment improved motor function, tremors, seizures, and hand clasping in 65% of cells.
Researchers screened genes for interactions with MECP2 and found five modifiers, including squalene epoxidase, which is drug-targetable. Statin drugs improved symptoms in Rett mice, performing better on mobility tests and living longer. However, further clinical trials are necessary to confirm efficacy and determine optimal treatment.
Two papers reveal key domains of the MECP2 protein responsible for Rett Syndrome, including a methyl binding domain and an NCoR/SMRT Interaction Domain. Understanding these domains is crucial for developing effective treatments.
A bone marrow transplant has been shown to arrest severe symptoms of Rett syndrome, a devastating neurological disorder, by replacing faulty immune system cells. The procedure significantly extended the lifespan of Rett mouse models and improved their mobility, breathing, and overall health.
Researchers found that glia support neurons and provide energy substrates necessary for function. Re-expression of MeCP2 solely in astrocytes rescues lifespan, breathing, anxiety, and locomotor activities associated with Rett Syndrome in mouse models.
Research by Baylor College of Medicine reveals MeCP2 is required throughout life to maintain healthy brain function. The findings suggest that certain treatments may need to be maintained throughout the lifetime of individuals with Rett Syndrome.
Researchers found that removing MECP2 from GABA-producing neurons reduces neurotransmitter production by 30%, reproducing Rett symptoms. The study suggests a possible pathway to understanding neuropsychiatric disorders and potential therapeutic intervention.
Researchers propose that MeCP2 affects the entire genome in neurons, leading to increased histone acetylation and spurious transcription of 'junk DNA'. This discovery challenges the previous view of MeCP2 as a target-specific transcription factor.
Researchers found that MeCP2-deficient astrocytes stunt neighboring neuron growth but can recover when exposed to normal glia. This discovery supports the use of glial cells as targets for drug development, potentially leading to new treatments for Rett Syndrome and related MECP2 disorders.
The Rett Syndrome Research Trust aims to bring novel therapeutics addressing the underlying MECP2 pathology to clinical trials within five years. Classic Rett Syndrome affects females almost exclusively, causing severe physical disability and requiring total care.