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Updated: Jan 21, 2026

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
Published on: May 22, 2020
Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome
Uri Kahanovitch1, Kelsey C Patterson2, Raymundo Hernandez1,3
1School of Neuroscience, Virginia Polytechnic and State University, Life Sciences I Building Room 212, 970 Washington St. SW, Blacksburg, VA 24061, USA.
Abstract:
Rett syndrome (RTT) is a rare, X-linked neurodevelopmental disorder typically affecting females, resulting in a range of symptoms including autistic features, intellectual impairment, motor deterioration, and autonomic abnormalities. RTT is primarily caused by the genetic mutation of the Mecp2 gene. Initially considered a neuronal disease, recent research shows that glial dysfunction contributes to the RTT disease phenotype. In the following manuscript, we review the evidence regarding glial dysfunction and its effects on disease etiology.
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