Presenting a potentially pioneering approach to Rett syndrome, a severe chromosomal disorder that affects females, Massachusetts General Hospital (MGH) recently published study results suggesting that genetic reactivation might serve as a key to a remedy.
Ranking behind only Down syndrome in its severity, MGH said in a release that Rett syndrome renders patients intellectually compromised, with a constellation of symptoms common to other neurological conditions.
As an X chromosome-linked disease, Rett syndrome affects only girls, who appear normal for their first year of life before physical and cognitive regression appears. MGH research fellow Lieselot Carrette portrayed the condition as “resembling a combination of autism, cerebral palsy, Parkinson’s, epilepsy and anxiety disorder,” stressing that no treatment currently exists, the release said. Patients require lifelong intensive care.
The MGH team published their report online recently in PNAS Early Edition, illustrating a dual-modality strategy for safely reactivating certain inactive X-chromosomes in order to achieve increased manifestation of healthier proteins. Goals included controlling the flawed chromosomes while amplifying the normal ones.
"The approach described in our work takes advantage of the fact that every patient carries a cure within her own cells,” Carrette’s colleague, Dr. Jeannie Lee of MGH’s department of molecular biology, said in the release. “But that cure is locked up by a life-long process called X-chromosome inactivation. Our goal has been to unlock the inactive X and restore expression of the good gene copy."