The research may lead to a major step toward a cure.
Rett syndrome is a neurodevelopmental disorder that affects almost all aspects of a child’s life, from walking to eating to intellectual capability. There is no cure for the disease, which occurs mostly in girls, and treatments are aimed at slowing the loss of abilities and alleviating the debilitating symptoms.
Jing Crystal Zhao, PhD, associate professor at Sanford Burnham Prebys, has received new funding from the Rett Syndrome Foundation to find ways to reverse the changes in a gene that causes Rett syndrome. The research may lead to a major step toward a cure.
“I’m very grateful to the Rett Syndrome Foundation, and excited to begin this project,” says Zhao. “While Rett syndrome may not be well known among the general public, our research may lead to treatments to improve the lives of patients around the world.”
More than 90% of Rett Syndrome cases are caused by genetic changes in a gene called MECP2. Every female carries two copies of the MECP2 gene. Rett syndrome patients carry both a normal and a mutant copy of MECP2. Unfortunately, in some cells, the normal copy of MEPC2 becomes inactive due to a biological process called X-chromosome inactivation—a process that occurs in females—and this leads to Rett syndrome.
“Recent studies suggest that reversing X-chromosome inactivation could reactivate the normal copy of the MECP2 gene,” says Zhao. “We have identified an DNA element that plays a key role in X-chromosome inactivation. We are now going to test if we can block this element and restore the silent MECP2 gene, which could be life changing.
“Our aim is to help individuals regain the skills and abilities stolen by Rett syndrome,” adds Zhao. “This award takes us closer to that goal.”
