Epigenetic Dysregulation in Rett Syndrome: Multisystem Pathophysiology, MECP2 Isoform-Specific Mechanisms, and Targeted Therapeutic Strategies

Abstract excerpt

Rett syndrome (RTT), an X-linked neurodevelopmental disorder predominantly arising from de novo MECP2 mutations, manifests with psychomotor regression, stereotypic hand movements, gait apraxia, and expressive aphasia, driven by dosage-sensitive epigenetic dysregulation via MeCP2's methyl-CpG-binding domain (MBD) and transcriptional repression domain (TRD). Isoform-specific expression (MeCP2-E1 neuronal predominanc...

Topics

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• Central Nervous System
• Epigenesis, Genetic
• Methyl-CpG-Binding Protein 2
• Mutation
• Neurotransmitter Agents
• Phenotype
• Rett Syndrome
• X Chromosome

Identifiers and source

Literature Corpus work

e37235be-ca41-5b2c-8f5e-32ae0eaeb960

DOI

10.20944/preprints202511.1905.v2