Investigation of the Cause and Challenge of Rett Syndrome Essay example

Investigation of the Cause and Challenge of Rett Syndrome Essay example

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Investigation of the Cause and Challenges of Rett Syndrome

Rett Syndrome (RTT) is a neurodevelopment disorder and one of the most common causes of mental retardation in females, with a incidence of 1 in 10,000-15,000 [6]. Classic RTT patients appear to develop normally for the first 6-18 months of their lives, then gradually have a regression in speech and purposeful hand use leading to disease developments such as autism, microcephaly, ataxia, seizures and stereotypic hand movement [7]. The condition of patients usually stabilizes after initial regression and patients will survive into adulthood. RTT is proposed to be caused by an X-linked dominant mutation with lethality in hemizygous males as RTT occurs almost exclusively in females. Mutations in the X-linked gene encoding Methyl-CpG-binding protein 2 (MECP2) are responsible for 95-97% of Rett syndrome (RTT) cases [7]. In the mammalian genome, MeCP2 binds CpG dinucleotides selectively and interact with histone deacetylase and the corepressor SIN3A to mediates transcriptional repression.
The dynamic feature of RTT is once considered to involve a period of mainly normal early development followed by a abstruse neurologic regression and subsequent stabilization or partial recovery. However, growing knowledge about MECP2 expression in the developing brain and its role in transcriptional regulation contrasts this view. Over the last 20 years there has been a shift from some initial proposals regarding abnormal pre-regressional development in RTT patients to the growing proof of early activity abnormalities demonstrating a poor integration of young nervous systems. In spite of that, the nature cause of these early signs and their potential for reliable and early iden...

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...atory/inhibitory synaptic imbalances and neuromodulatory deficits are proved to be effective to some level and waiting for further clinical trials [11]. Future researches are also required to provide complete understanding with regard to MECP2 mechanisms to get a better insight on how disruption of MET expression in different neurodevelopmental disorders will have functional consequences that contribute to disorder symptoms. These results could shed light to new therapeutic treatments, particularly through the pharmacological manipulation of the cation chloride cotransporters. More studies in the MECP2 knockout model and other models to study the disease mechanism are needed to explore these possibilities.

To sum up, as methods are honed and MECP2 mechanism are more and more revealed, we will acquire a more comprehensive understanding and proper treatment of RTT.

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