It’s a breakthrough in understanding the process, but it is not yet a breakthrough for treating the condition.
A new study led by Weill Cornell Medical College scientists shows that the most common genetic form of mental disability and autism occurs because of a mechanism that shuts off the gene associated with the disease. The findings, published today in Science, also show that a drug that blocks this silencing mechanism can prevent Fragile X syndrome — suggesting similar therapy is possible for 20 other diseases that range from mental disability to multisystem failure.
Fragile X syndrome occurs mostly in boys, causing intellectual disability as well as telltale physical, behavioral and emotional traits. While researchers have known for more than two decades that the culprit behind the disease is an unusual mutation characterized by the excess repetition of a particular segment of the genetic code, they weren’t sure why the presence of a large number of these repetitions — 200 or more — sets the disease process in motion.