Author Archives: Joana Carvalho

Among people with a so-called premutation in the FMR1 gene, the key gene in fragile X syndrome, males show a faster progression of motor impairments than do females, a study found. The pattern and distribution of brain lesions was also seen to differ by sex, possibly explaining why female premutation carriers…

Techniques that evaluate the pattern of DNA methylation — a chemical modification normally associated with gene silencing — in a portion of the FMR1 gene are feasible and highly sensitive methods to diagnose fragile X syndrome in newborns, a study suggests. When used in newborn boys, and to a…

Scientists found that small fish larvae lacking a functional fmr1 gene — the fish equivalent to the human FMR1 gene that, when mutated, causes fragile X syndrome — show changes in specific brain circuits that induce extreme sensitivity to sound. According to investigators, these findings may help shed…

Loss of the fragile X mental retardation protein (FMRP), the protein missing in people with fragile X syndrome, was found in mouse and human astroglia — nerve cells that support and protect neurons — to activate a signaling pathway that ends up disrupting cell communication in the…

The fragile X mental retardation protein (FMRP) — the protein missing in people with fragile X syndrome — helps prevent DNA damage and maintain genome stability, a study found. According to investigators, these findings may help shed new light on the molecular processes underlying fragile X. The…

Scientists have discovered part of the mechanisms underlying synaptic plasticity — the process that allows nerve cell connections called synapses to become stronger or weaker over time — that are responsible for controlling how the brain stores information in the form of memories. According to the team, these findings…

Scientists found evidence of a decoupling between structural and functional changes that weaken synapses (the place where nerve cells communicate). The findings may help identify new therapeutic targets and develop alternative therapies for people with fragile X syndrome, researchers said. The study, “Dissociation of functional and…

Trifluoperazine, an approved antipsychotic medication normally prescribed to treat schizophrenia and anxiety, may be a promising therapeutic candidate for people with fragile X syndrome, a new study suggests. The study, “Transcriptome signature analysis repurposes trifluoperazine for the treatment of fragile X syndrome in…

Researchers have discovered that the fragile X mental retardation protein (FMRP) — the key protein lacking in fragile X syndrome — interacts with small fragments of a gene called eIF4G to control the production of proteins involved in nerve cell communication and memory. The findings were reported…

A mouse model of fragile X syndrome shows mild auditory impairments resembling those seen in people with the disorder, a study found. The study, “Characterization of auditory and binaural spatial hearing in a Fragile X Syndrome mouse model,” was published in the journal eNeuro. Fragile…