Lost connections: Neurons that have excess MECP2 expression typically develop excess synapses (green and red) — but blocking TCF20 protein returns levels to normal. Researchers have identified a new protein complex that shapes the function of the MECP2 protein, encoded by the gene mutated in most cases of Rett syndrome. The complex reveals a novel […]
Jana von Hehn Senior director of research and clinical strategyRett Syndrome Research Trust Rett syndrome affects about 1 in 10,000 female babies, for whom there are no approved medications. (The condition rarely affects boys.) Clinical trials of drugs to treat the condition’s core features — which include motor, eating and breathing problems, and autism — […]
New drug use: Trofinetide appears to ameliorate the features of Rett syndrome, but more data are needed. Investigational drug trofinetide, an insulin-like growth factor 1 (IGF-1) analogue, helps relieve problems like anxiety and breathing problems in girls and young women with Rett syndrome, according to unpublished results from a placebo-controlled study. Rett syndrome is caused […]
Leitlicht: Das mit Autismus verbundene Gen ANK2 steuert die Expression des Natriumkanals NaV1.2 (violett) in reifen Dendriten. Die Jahrestagung 2021 der Society for Neuroscience (SfN) ging gestern nach vier vollgepackten Tagen virtueller Präsentationen zu Ende. Der persönliche Teil der Veranstaltung wurde vor einem Monat wegen der anhaltenden Coronavirus-Pandemie abgesagt. Eine Reihe technischer Pannen plagten die […]
Multi-pronged Approach: New therapies for Rett Syndrome look at the same goal from different angles. Photo by William Mebane In theory, researchers know how to reverse many of the debilitating effects of Rett syndrome: increasing the expression of the protein MECP2. People with this condition typically have a mutated copy of the MECP2 gene and, […]
