The impact of the changes in levels of adhesion molecules NCAM2 and DsCAM on synapse formation and function: implications for Down syndrome

粘附分子 NCAM2 和 DsCAM 水平变化对突触形成和功能的影响：对唐氏综合症的影响

• 批准号: nhmrc : 1011478
• 负责人: Dr Vladimir Sytnyk
• 金额: $ 22.27万
• 依托单位: The University of New South Wales
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/impact-changes-levels-implications-syndrome/109589
• 关键词: impact; changes; levels; adhesion; molecules

Down syndrome (DS) results from triplication of chromosome 21 and leads to mental retardation, molecular mechanisms of which are not understood. We found that two proteins, NCAM2 and DSCAM, encoded at chromosome 21 are highly expressed in synapses. Synapses are specialized contacts between neurons which allow neurons to process information in the brain. In this project we will test a hypothesis that changes in NCAM2 and DSCAM expression result in synapse abnormalities observed in DS.

唐氏综合征（DS）是由21号染色体的三倍化引起的，并导致智力迟钝，其分子机制尚不清楚。我们发现，两个蛋白质，NCAM 2和DSCAM，在21号染色体编码的突触中高度表达。突触是神经元之间的专门联系，允许神经元在大脑中处理信息。在这个项目中，我们将测试一个假设，即NCAM 2和DSCAM表达的变化导致在DS中观察到的突触异常。