Among people who carry the fragile X premutation, about 14 percent of boys and 5 percent of girls meet the criteria for autism, but the ‘broad autism phenotype’ may be far more common.
Spectrum: Autism Research News
The protein, FMRP, shapes cell signaling near synapses but switches to regulate genes in the cell body, according to new research.
Steve Warren co-discovered the genetic mechanism that underpins fragile X syndrome and was a generous, inspiring mentor to many.
Brain cells from the cerebellums of mice that model tuberous sclerosis show dampened levels of proteins controlled by FMRP, the protein missing in fragile X syndrome.
Elizabeth Berry-Kravis has spent decades uncovering molecular clues to fragile X syndrome and crafting trials of treatments. Her efforts are paying off.
People with particularly low levels of FMRP, the protein lacking in those with fragile X syndrome, are more likely to also have autism and severe intellectual disability.
Plugging a leaky mitochondrial membrane may help fragile X neurons to mature and function more efficiently.