Selective Xi reactivation and alternative methods to restore MECP2 function in Rett syndrome.

ABSTRACT: The human X-chromosome harbors only 4% of our genome but carries over 20% of genes associated with intellectual disability. Given that they inherit only one X-chromosome, males are more frequently affected by X-linked neurodevelopmental genetic disorders than females. However, despite inheriting two X-chromosomes, females can also be affected because X-chromosome inactivation enables only one of two X-chromosomes to be expressed per cell. For Rett syndrome and similar X-linked disorders affecting females, disease-specific treatments have remained elusive. However, a cure may be found within their own cells because every sick cell carries a healthy copy of the affected gene on the inactive X (Xi). Therefore, selective Xi reactivation may be a viable approach that would address the root caus

SUBMITTER: Grimm NB 

PROVIDER: S-EPMC9915138 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature