Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research
| Autor: | Robby M. Zachariah, Mojgan Rastegar |
|---|---|
| Přispěvatelé: | University of Manitoba |
| Rok vydání: | 2012 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Article Subject Methyl-CpG-Binding Protein 2 Repressor Rett syndrome Epigenetics of autism Review Article Cell fate determination Biology Bioinformatics MECP2 Epigenesis Genetic lcsh:RC321-571 03 medical and health sciences 0302 clinical medicine medicine Rett Syndrome Humans Epigenetics lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry 030304 developmental biology Epigenesis 0303 health sciences Proteins DNA Methylation medicine.disease 3. Good health Phenotype Neurology DNA methylation Mutation Neurology (clinical) Neuroscience 030217 neurology & neurosurgery |
| Zdroj: | Neural Plasticity, Vol 2012 (2012) Neural Plasticity |
| Popis: | Epigenetics refer to inheritable changes beyond DNA sequence that control cell identity and morphology. Epigenetics play key roles in development and cell fate commitments and highly impact the etiology of many human diseases. A well-known link between epigenetics and human disease is the X-linkedMECP2gene, mutations in which lead to the neurological disorder, Rett Syndrome. Despite the fact that MeCP2 was discovered about 20 years ago, our current knowledge about its molecular function is not comprehensive. While MeCP2 was originally found to bind methylated DNA and interact with repressor complexes to inhibit and silence its genomic targets, recent studies have challenged this idea. Indeed, depending on its interacting protein partners and target genes, MeCP2 can act either as an activator or as a repressor. Furthermore, it is becoming evident that although Rett Syndrome is a progressive and postnatal neurological disorder, the consequences of MeCP2 deficiencies initiate much earlier and before birth. To comprehend the novel and challenging concepts in MeCP2 research and to design effective therapeutic strategies for Rett Syndrome, a targeted collaborative effort from scientists in multiple research areas to clinicians is required. |
| Databáze: | OpenAIRE |
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