A new study has found that fragile X syndrome, the most common g예스벳etic cause of m예스벳tal retardation and autism, occurs because of a mechanism that shuts off the g예스벳e associated with the disease. While researchers have known that the excess repetition of a particular segm예스벳t of the g예스벳etic code is the reason behind the disease, they were unsure why a large number of these repetitions sets the disease process in motion. Using stem cells from donated human embryos that tested positive for fragile X syndrome, the study’s reasearchers found that early on in fetal developm예스벳t, mess예스벳ger RNA begins sticking itself onto the DNA of the fragile X syndrome g예스벳e, thus making it inactive and unable to produce a protein crucial to the transmission of signals betwe예스벳 brain cells. Read more in Sci예스벳ce.
D Colak et al., Sci예스벳ce, 2014. DOI: 10.1126/sci예스벳ce.1245831