Author Archives: Marta Figueiredo PhD

Nocturnal Teeth Grinding Linked to Frequent Snoring

Bruxism, also known as teeth grinding and jaw clenching, during the night is associated significantly with frequent snoring in girls and women with Rett syndrome, an international database study shows. The data also support the previously reported high prevalence of bruxism (reported in 66.2% of patients) in this…

MeCP2-boosting Approaches Led to Toxic Events in Mice

Providing a working version of MECP2 — the gene mutated in most cases of Rett syndrome — to cells reversed disease-specific symptoms in a mouse model of a common, milder form of Rett syndrome, a study shows. However, female mice treated with this approach showed signs of excessive, toxic levels of MeCP2, the…

Changes in Gut Microbiota Associated With Disease Severity

The richness and diversity of the gut’s microbial community, or microbiota, are reduced significantly after puberty and associated with greater disease severity in girls and young women with Rett syndrome, a study shows. These findings add to the growing body of evidence linking Rett syndrome and altered gut microbiota.

Potential Gene Therapy TSHA-102 Does Well in Animal Study

TSHA-102, an experimental gene therapy for Rett syndrome, safely and effectively normalized levels of MeCP2 — the protein missing or defective in most Rett patients — in the brain and significantly improved survival in a mouse model of the disease, a study shows. Notably, the data suggest this investigational treatment can…