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MeCP2 as a genome-wide modulator: the renewal of an old story.

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Reference: Abstract: Since the discovery of MeCP2, its functions have attracted the interest of generations of molecular biologists. Its function as a transducer of DNA methylation, the major post-biosynthetic modification found throughout genomes, and its association with the neurodevelopmental disease Rett syndrome highlight its central role as a transcriptional regulator, and, at the same time, … Read more

Epigenetic dysfunction of MeCP2 in chronic heart failure (B03)

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Reference: B03 – Subproject to SFB 992: Medical Epigenetics (MEDEP) From basic mechanisms to clinical applications Abstract: The methyl-CpG-binding protein 2 (MeCP2) detects symmetrically methylated cytosine-guanine sequences (CpG) in the genomic DNA and modulate gene expression by recruiting coactivator and corepressor-proteins.ﾠWe found that MeCP2 is significantly downregulated in hypertrophic and failing heart.ﾠThe functional significance of … Read more

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome

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Reference: RES-145-28n.a.003 Abstract: We aimed to improve the understanding of genotypeﾖphenotype correlations in Rett syndrome (RS) by adopting a novel approach to categorising phenotypic dimensions ﾖ separating typicality of presentation, outcome severity and age of onset ﾖ and by classifyingﾠMECP2ﾠmutations strictly by predicted functional attributes.ﾠMECP2ﾠmutation screening results were available on 190 patients with a clinical … Read more

Early onset seizures and Rett-like features associated with mutations in CDKL5

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Reference: RES-145-28-1003 Abstract: Mutations in theﾠCDKL5ﾠgene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients withﾠCDKL5ﾠmutations sometimes also show features similar to those seen in Rett Syndrome (RTT). We have screened theﾠCDKL5ﾠgene in 94 patients with RTT or a RTT-like phenotype who … Read more

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