Variable expression of MECP2, CDKL5, and FMR1 in the human brain: Implications for gene restorative therapies.

ABSTRACT: MECP2, CDKL5, and FMR1 are three X-linked neurodevelopmental genes associated with Rett, CDKL5-, and fragile-X syndrome, respectively. These syndromes are characterized by distinct constellations of severe cognitive and neurobehavioral anomalies, reflecting the broad but unique expression patterns of each of the genes in the brain. As these disorders are not thought to be neurodegenerative and may be reversible, a major goal has been to restore expression of the functional proteins in the patient's brain. Strategies have included gene therapy, gene editing, and selective Xi-reactivation methodologies. However, tissue penetration and overall delivery to various regions of the brain remain challenging for each strategy. Thus, gaining insights into how much restoration would be

SUBMITTER: Zito A 

PROVIDER: S-EPMC10907246 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature