Ask about this productRelated genes to: MECP2 antibody (Ser80)
- Gene:
- MECP2 NIH gene
- Name:
- methyl-CpG binding protein 2
- Previous symbol:
- RTT, MRX16, MRX79
- Synonyms:
- -
- Chromosome:
- Xq28
- Locus Type:
- gene with protein product
- Date approved:
- 1996-09-03
- Date modifiied:
- 2019-04-23
Related products to: MECP2 antibody (Ser80)
Related articles to: MECP2 antibody (Ser80)
- : Rett Syndrome (RTT) is a progressive neurodevelopmental disorder caused by gene mutations. MeCP2 protein binding to methylated DNA is involved in normal brain development and function. T158M is a common RTT-associated mutation, where a threonine is replaced with a methionine, affecting protein function and stability. RTT has recently been identified as a neurometabolic disorder, with metformin emerging as a potential candidate drug. Metformin is a safe and accessible drug, commonly used for Type 2 diabetes. Our team previously studied the regulatory role of metformin on the expression of RTT-related genes/proteins using in vitro and in vivo approaches. However, the phenotypical and behavioral impact of metformin in transgenic mice carrying the common T158M mutation was not explored. : Wild type (WT) and mutant () male mice were subjected to daily intraperitoneal injection of metformin for 20 days. The control mice received a daily intraperitoneal injection of the solvent. The main RTT-like phenotypical criteria were assessed daily. Behavioral tests included the open field test and elevated plus maze. : Behavioral tests indicated no significant effect of metformin on the anxiety levels, locomotion, and exploratory behaviors in the hemizygous male mice, despite our observation of increased anxiety levels in the WT counterparts. In hemizygous male mice, metformin treatment showed beneficial effects on RTT-like phenotypes, including breathing irregularities, gait abnormalities, hindlimb clasping, and overall total score. The positive effect of metformin was also observed on the body weight in the hemizygous male mice. : Our findings provide evidence for potential therapeutic effects of metformin for MeCP2-associated neurological disorders. - Source: PubMed
Publication date: 2026/04/15
Arezoumand Khatereh SaeiAkhtar Ghanan BinKadar Shahib AshrafJarmasz Jessica SRoberts Chris-TiannMehrabadi Abbas RezaeianOlson Carl ORastegar Mojgan - Social behavior depends on neural circuits that encode social identity, memory, and motivational value. These processes engage coordinated activity across hippocampal subregions, medial prefrontal cortex, thalamic and hypothalamic nuclei, as well as the mesocorticolimbic dopaminergic systems that regulate internal state, hierarchy, and social reward. In Rett syndrome and MeCP2-deficient rodent models, basic sociability is often preserved, alongside impairments in social memory, dominance behavior, aggression control, and flexible social responding, frequently accompanied by anxiety-like and sensorimotor disturbances. These behavioral phenotypes are associated with MeCP2-dependent molecular dysfunctions, including altered activity-dependent transcription, reduced BDNF-TrkB signaling, disrupted synaptic maturation, and altered network activity within prefrontal and hippocampal circuits. Together, these findings indicate that Rett-related social deficits reflect impaired integration and valuation of social information rather than a primary loss of social interest. Understanding how MeCP2 regulates the development and function of distributed social circuits may inform strategies to restore adaptive social behavior in Rett syndrome and related neurodevelopmental disorders. - Source: PubMed
Publication date: 2026/04/15
Acevedo-Triana CesarMedeiros DestynieLopes Gonçalez JuliaLi WeiPozzo-Miller Lucas - The etiology of major depressive disorder (MDD) is multifactorial with both genetic and environmental factors, such as adverse/stressful life events, contributing to risk. There is some evidence suggesting that microRNAs (miRNAs) mediate environmental-genetic interaction leading to the brain dysfunctions that underlie MDD. However, changes in miRNAs expression in human brain regions due to stress and associated with MDD are unclear. To increase the evidence in this regard, miRNA sequencing was performed on tissue samples of subgenual anterior cingulate cortex (sgACC) obtained from depressed patients and control subjects, as well on tissue samples of medial prefrontal cortex (mPFC) and basolateral amygdala (BLA) from mice exposed to chronic social stress (CSS) and control animals. DESeq2 was applied to identify differentially expressed miRNAs (DEMs) and weighted co-expression network preservation analysis to uncover conserved molecular mechanisms between species. Finally, pathways obtained from DESeq2 and preservation analyses were overlapped to robustly identify MDD-related processes across bioinformatic approaches.Eighteen DEMs were identified in the human sgACC, 11 in the mPFC and 9 in the BLA of mice. The human sgACC DEMs were involved mainly in intracellular signaling and immune system-related pathways. The mouse mPFC and BLA DEMs were mainly involved in, respectively, intracellular signaling and nervous system functions. Preservation patterns between humans and mice indicated an over-representation of processes related to cellular signaling. Transcriptional regulation by MECP2 and Protein Kinase A signaling were the two pathways consistently altered across species, brain regions, and bioinformatic approaches. Although further studies are needed, they could represent a novel target for intervention strategies and confirm the dysregulation of intracellular signaling, immune, neuronal and synaptic functions in MDD. - Source: PubMed
Publication date: 2026/04/20
Saleri SamanthaMarizzoni MoiraGenini PatriziaGalbiati ChiaraCattaneo AnnamariaTurecki GustavoGrosskopf HenningSteinacker PetraOtto MarkusPoggi GiuliaPryce Christopher RMechawar NaguibCattane Nadia - Rett syndrome is a neurodevelopmental disorder caused by an X-linked mutation of the MeCP2 gene. Individuals with Rett syndrome, as well as rodent models of this disorder, demonstrate abnormal cortical responses to sound, which impair auditory discrimination ability. Vagus nerve stimulation (VNS) paired with tones has been shown to drive robust changes in the auditory cortex physiology of Mecp2 rats and has the potential to improve the communication abilities of individuals with Rett syndrome. The aim of this study was to describe the proteomic differences present in the auditory cortex of the Mecp2 rat model of Rett syndrome, as well as the molecular effect of VNS paired with tones. This study used global proteomic analysis of auditory cortex tissue taken from Mecp2 rats exposed to VNS paired with tones compared to untreated Mecp2 rats and wild-type (WT) littermate controls with no VNS exposure. Our results demonstrate dysregulation of mitochondrial and synaptic proteins in the Mecp2 rat auditory cortex. In addition, we show that VNS-tone pairing induces significant alterations to the auditory cortex proteome of Mecp2 rats by changing the expression of proteins involved in regulating synaptic vesicles and synaptic transmission. This work provides evidence of key mechanisms that may drive auditory processing dysfunction in Rett syndrome and demonstrates that VNS-tone pairing is sufficient to alter protein expression in the auditory cortex. - Source: PubMed
Myers Isabella KBian FangSolano Maria PZoghby Yara ElTavares-Ferreira DianaDanaphongse TanyaEngineer Crystal T - Rett syndrome is a neurodevelopmental disorder caused by mutations in MECP2 and is frequently associated with scoliosis; however, the molecular mechanisms linking MeCP2 dysfunction to this phenotype remain poorly understood. In this study, we identify LBX1, a gene implicated in adolescent idiopathic scoliosis, as a downstream target of MeCP2 and investigate its regulatory role in neuronal gene expression. Chromatin immunoprecipitation (ChIP) analysis demonstrated that MeCP2 binds to the promoter region of LBX1, which contains a CT-rich and highly methylated sequence, providing a favorable context for MeCP2 binding. Consistently, CRISPR/Cas9-mediated disruption of MECP2 in A172 cells resulted in a marked reduction of LBX1 expression, whereas expression of the antisense transcript LBX1-AS remained unchanged, indicating gene-specific regulation. These findings support a role for MeCP2 as a transcriptional activator of LBX1 in this context. Given the established role of LBX1 in specifying GABAergic and glutamatergic neuronal identities, we performed targeted gene expression profiling using a GABA and glutamate-related PCR array. Several neuronal genes were differentially expressed in MeCP2-deficient cells, and GABRB1 and P2RX7 were identified as LBX1-dependent downstream targets, as their expression levels were restored by ectopic expression of LBX1. Together, these findings reveal a previously unrecognized MeCP2-LBX1 regulatory axis and suggest that its disruption may contribute to altered neuronal signaling. This pathway provides a potential molecular link between MeCP2 dysfunction and scoliosis in Rett syndrome. - Source: PubMed
Publication date: 2026/04/25
Horike Shin-IchiMeguro-Horike Makiko