Joana Carvalho, PhD, managing science editor —

Using several models of Rett syndrome, scientists have discovered a direct, time-dependent relationship between MeCP2 — the protein altered or with lowered levels in most cases of this disorder — and GABAA receptors, which are important for normal communication between nerve cells. The findings suggest that treating Rett…

A specific modification made in the huntingtin protein, which plays a key role in brain development, was able to improve motor and lung function and prolonged the survival in a mouse model of Rett syndrome, a study has found. In particular, this alteration promotes the transport of…

Low levels of a protein called KCC2 disrupt the ion transport balance in nerve cells and may underlie the developmental defects in people with Rett syndrome, a study says. The study, “KCC2 expression levels are reduced in post mortem brain tissue of Rett syndrome patients,” was published in…

“Uptime” activities, such as standing and walking, that promote physical activity and work against a sedentary lifestyle can improve walking capacity and life quality in girls and women with Rett syndrome, a study reports. The study, “Feasibility and Effectiveness of an Individualized 12-Week “Uptime” Participation (U-PART) Intervention in Girls…

The pattern of X chromosome inactivation in female patients with Rett syndrome is not the only contributing factor for disease severity, a study contends. The research, “X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients,” was published in Scientific…

Chemical modifications in the protein KCC2 that accelerate its activity during brain development may alleviate some of the cognitive and behavioral symptoms of several neurodevelopmental disorders, including Rett syndrome, a mouse study has found. The study, “Developmental Regulation of KCC2 Phosphorylation Has Long-Term Impacts on Cognitive Function,”…

Monkeys with Rett syndrome pay more attention to stronger social visual stimuli than healthy animals do, an eye-tracking study has found. The findings, “Social-Valence-Related Increased Attention in Rett Syndrome Cynomolgus Monkeys: An Eye-Tracking Study,” were published in Autism Research. Rett syndrome is a rare genetic…

Implementation of meta-analysis — a statistical approach that combines information from different studies — using data from studies on the protein and genetic landscape of Rett syndrome is essential to discover new therapeutic targets for this disease, according to a recent review. The study, “Genome-wide transcriptomic and proteomic…

Exosomes — small vesicles released by cells that play an important role in cell communication — carry chemical signals that help regulate the function and development of neural circuits and may even reverse some of the abnormal features observed in a cellular model of Rett syndrome, a study has…

Teeth malocclusion, or misalignment, is linked to severe dysphagia (difficulty in swallowing) in girls with Rett syndrome, a study finds. The research was reported in a study, “Correlation Between Dysphagia and Malocclusion in Rett Syndrome: A preliminary study,” published in the Sultan Qaboos University Medical Journal.