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Updated: Jun 3, 2026

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
Published on: May 22, 2020
Cholinergic hypofunction in MeCP2-308 mice: beneficial neurobehavioural effects of neonatal choline supplementation
Laura Ricceri1, Bianca De Filippis, Andrea Fuso
1Section of Neurotoxicology and Neuroendocrinology, Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161 Rome, Italy. laura.ricceri@iss.it
Abstract:
We studied the long-term effects of a postnatal choline supplementation (from birth till weaning) in the truncated MeCP2-308 mouse model of Rett syndrome. Adult male mutant hemizygous (hz) mice showed a reduction of locomotor activity compared to wild type (wt) littermates. Early choline treatment restored wt-like locomotor activity levels in hz mice. Reduced striatal choline acetyl transferase (ChAT) activity and decreased levels of cortical mRNA NGF were found in hz mice. Choline supplementation increased striatal ChAT activity and also enhanced NGF and BDNF expression in cortical and hippocampal regions. As a whole, postnatal choline supplementation attenuates some of the behavioural and neurobiological abnormalities of the Mecp2-308 phenotype.
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