Functional Significance of MeCP2 Target Genes in the Pathogenesis of Rett Syndrome.
MeCP2 靶基因在 Rett 综合征发病机制中的功能意义。
基本信息
- 批准号:nhmrc : 457238
- 负责人:
- 金额:$ 31.79万
- 依托单位:
- 依托单位国家:澳大利亚
- 项目类别:NHMRC Project Grants
- 财政年份:2007
- 资助国家:澳大利亚
- 起止时间:2007-01-01 至 2009-12-31
- 项目状态:已结题
- 来源:
- 关键词:
项目摘要
Rett syndrome (RTT) is a devastating progressive disorder affecting motor and intellectual development. It is characterised by normal development for the first 6-12 months of life, followed by developmental regression with the loss of learned purposeful hand function, loss of acquired speech and communicative abilities, sometimes leading to the incorrect diagnosis of autism. It is a genetic disorder and contributes to a substantial proportion of girls with severe mental retardation. In 1999, a gene (called MECP2) was identified which appears to be the cause of RTT in at least 80% of affected girls and women. Now that the gene responsible for many cases of RTT has been found, new questions are being asked. Why are the effects of these mutations restricted to the brain? Which other genes might play a role in the symptoms seen in RTT? The focus of this research project is to examine these 2 questions. Using new research techniques, we have identified genes that are themselves secondarily affected by mutations in the MECP2 gene. We wish to study these genes in more detail, with the aim being to gain a greater understanding of how these genes contribute to the onset of impaired brain function in girls and women with RTT. These insights are essential foundations for the development and evaluation of new and more specific therapies for this as yet incurable disorder.
Rett综合征(RTT)是一种影响运动和智力发育的破坏性进行性疾病。其特征是在生命的前6-12个月内正常发育,随后发育倒退,失去习得的有目的的手功能,丧失后天的语言和沟通能力,有时导致自闭症的错误诊断。这是一种遗传性疾病,导致相当大比例的女孩患有严重的智力迟钝。1999年,一种名为MECP 2的基因被发现,它似乎是至少80%受影响的女孩和妇女的RTT的原因。现在已经发现了导致许多RTT病例的基因,新的问题正在被提出。为什么这些突变的影响仅限于大脑?哪些其他基因可能在RTT中观察到的症状中发挥作用?本研究的重点就是探讨这两个问题。使用新的研究技术,我们已经确定了本身受到MECP 2基因突变影响的基因。我们希望更详细地研究这些基因,目的是更好地了解这些基因如何导致RTT女孩和妇女脑功能受损。这些见解是开发和评估这种尚未治愈的疾病的新的和更具体的疗法的重要基础。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Prof Assam El-Osta其他文献
Prof Assam El-Osta的其他文献
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The Persisting Vascular Effects of Activation of the Renin-Angiotensin System
肾素-血管紧张素系统激活对血管的持续影响
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nhmrc : 1078609 - 财政年份:2014
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$ 31.79万 - 项目类别:
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