Patricia Inácio, PhD,  science writer—

Fibroblasts from a Rett syndrome patient with a severe MECP2 mutation (T158M) showed markedly low levels of coenzyme Q10 (CoQ10), along with signs of mitochondrial redox imbalance and dysfunction, a lab study shows. CoQ10 helps mitochondria — the cell’s energy-producing “powerhouses” — function properly. Supplementing the fibroblasts with ubiquinol, a…

Ferroptosis, a form of cell death marked by the accumulation of iron, may contribute to cellular dysfunction in Rett syndrome, according to a study. Cells from Rett patients exhibited hallmarks of ferroptosis, including oxidative damage to lipids, or fats, and abnormal mitochondria, the cell’s powerhouses. Incubation with a…

“The Clinical Severity Scale (CSS) remains a relevant tool in assessing disease severity in Rett syndrome as it reflects core clinical criteria and mirrors concerns from parents or caregivers, but its role in gauging outcomes is limited, a study suggests.” CSS “continues to be…

A surgical procedure called a corpus callosotomy, which severs the main connection between the two sides of the human brain, was found to reduce the seizure burden of a young girl with Rett syndrome and hard-to-treat seizures, according to a case report. Calling this a “unique case,” the…

Digestive issues and growth deficits are common and persistent symptoms among classical Rett syndrome patients, according to a long-term study. No correlation was found between the type of mutation in the MECP2 gene, the chief cause of the disease, and the severity of digestive symptoms, which “emphasizes the need…

The behavior of MeCP2, the protein missing or defective in most people with Rett syndrome, is far more dynamic than was known, according to a study by U.S. researchers that provides new insights into the mechanisms underlying the rare condition. MeCP2 was previously believed to exert its regulatory functions…

The probiotic Lactobacillus plantarum PS128 was found to ease involuntary leg muscle contractions, known as dystonia, in Rett syndrome patients, according to a pilot study that tested the supplement’s impact on neurological outcomes. Noting that Rett syndrome “often involves gastrointestinal symptoms and gut microbiota imbalances,” the researchers had sought…

Unravel Biosciences has teamed up with Quality Chemical Laboratories (QCL) to manufacture materials for clinical trials of RVL001, an investigational therapy for Rett syndrome. RVL001 (vorinostat) will be tested in proof-of-concept trials in the U.S. and Colombia. Last year, the U.S. Food and Drug Administration (FDA)…

Sound processing — part of a complex system in the brain — is impaired in girls with Rett syndrome, and those impairments correlate with deficiencies in the children’s speech skills, a new study found. In their work with more than 40 children with Rett, a team of researchers in…

Taking a long time to fall asleep and having increased rapid eye movement (REM) sleep correlate with a higher burden of purposeless hand movements, called stereotypies, in girls with Rett syndrome, a new study shows. These findings may also suggest a “higher risk of insomnia in individuals with [Rett]…