Treating Fragile X
“The FMR1 (fragile X messenger ribonucleoprotein 1) gene promotor contains an average of 30 CGG repeats, and there may be anywhere from six to 40 repeats in unaffected individuals. People who carry between 55 and 200 repeats are said to have a premutation, while those with over 200 repeats have a full mutation, which causes fragile X, and the gene may be totally nonfunctional. FMR1 encodes for the FMRP protein, which functions in brain development. Mutations in FMR1 cause developmental delays, learning disabilities, and social and behavioral problems. . . . . The investigators [Harvard] obtained cells from fragile X patients, and used them to create cells that could be grown and experimented with in the lab. They found that by strongly inhibiting two enzymes called MEK and BRAF in the patient cells, the repeats in FMR1 could be reduced, and the expression of FMRP was reactivated.” MORE WITH VIDEO
Image Credit: Nature