Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research
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-linked M...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Neural Plasticity |
| Online Access: | http://dx.doi.org/10.1155/2012/415825 |
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| author | Robby Mathew Zachariah Mojgan Rastegar |
| author_facet | Robby Mathew Zachariah Mojgan Rastegar |
| author_sort | Robby Mathew Zachariah |
| collection | DOAJ |
| description | 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-linked MECP2 gene, 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. |
| format | Article |
| id | doaj-art-d5c35734b7784356b8c987027974306b |
| institution | Kabale University |
| issn | 2090-5904 1687-5443 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Neural Plasticity |
| spelling | doaj-art-d5c35734b7784356b8c987027974306b2025-02-03T05:58:52ZengWileyNeural Plasticity2090-59041687-54432012-01-01201210.1155/2012/415825415825Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 ResearchRobby Mathew Zachariah0Mojgan Rastegar1Regenerative Medicine Program, University of Manitoba, 745 Bannatyne Avenue, Winnipeg, MB, R3E 0J9, CanadaRegenerative Medicine Program, University of Manitoba, 745 Bannatyne Avenue, Winnipeg, MB, R3E 0J9, CanadaEpigenetics 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-linked MECP2 gene, 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.http://dx.doi.org/10.1155/2012/415825 |
| spellingShingle | Robby Mathew Zachariah Mojgan Rastegar Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research Neural Plasticity |
| title | Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research |
| title_full | Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research |
| title_fullStr | Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research |
| title_full_unstemmed | Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research |
| title_short | Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research |
| title_sort | linking epigenetics to human disease and rett syndrome the emerging novel and challenging concepts in mecp2 research |
| url | http://dx.doi.org/10.1155/2012/415825 |
| work_keys_str_mv | AT robbymathewzachariah linkingepigeneticstohumandiseaseandrettsyndrometheemergingnovelandchallengingconceptsinmecp2research AT mojganrastegar linkingepigeneticstohumandiseaseandrettsyndrometheemergingnovelandchallengingconceptsinmecp2research |