自闭症的新遗传模型-猫眼课题宝

自闭症的新遗传模型

批准号：

9251872

负责人：

Craig M Powell

金额：

$62.73万

依托单位：

UT SOUTHWESTERN MEDICAL CENTER

依托单位国家：

美国

项目类别：

财政年份：

2011

资助国家：

美国

项目状态：

已结题

起止时间：

2011-09-01 至 2021-05-31

来源：

https://reporter.nih.gov/project-details/9251872

关键词：

22q13 Adult Affect Alleles Animal Genetics Animal Model Autistic Disorder Behavior Behavioral Biochemical Birds Brain Brain region Cell Adhesion Clinical Trials Collaborations DNA Sequence Alteration Data Development Disease Early Intervention Electrophysiology (science)Ensure Exons FRAP1 gene Family Fragile X Syndrome Functional disorder Funding Generations Genes Genetic Genetic Models Goals Grooming Guanine Nucleotides Human Human Genetics Intellectual functioning disability Intervention Knock-in Mouse Knock-out Knockout Mice Laboratories Lead Link Methyl-CpG-Binding Protein 2 Modeling Molecular Mutant Strains Mice Mutation Neurodevelopmental Disorder PTEN gene Patients Pharmaceutical Preparations Pharmacology Pharmacotherapy Phenotype Proteins Publications Publishing Rett Syndrome Science Scientist Sirolimus Social Interaction Synapses Syndrome Techniques Time Unbalanced Translocation United States National Institutes of Health Work anxiety-like behavior autism spectrum disorder communication behavior critical developmental period critical period experimental study gene therapy innovation kinase inhibitor loss of function mutation mouse model mutant mutant mouse model neurodevelopment neuroligin 1 neuroligin 3 neuropsychiatry non-genetic novel postsynaptic pre-clinical public health relevance repetitive behavior reverse genetics scaffold social anxiety therapeutic target virtual

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中文摘要

翻译

描述（由申请人提供）：自闭症谱系障碍（ASD）是一种常见的，使人衰弱的疾病，影响社会互动，沟通和重复行为。最近的遗传学研究发现，在突触细胞粘附基因和基因编码的相互作用的蛋白质伴侣在中央突触自闭症谱系障碍的遗传原因的突变。该提案将描述新颖和创新的自闭症小鼠模型，允许大脑发育发生基因突变。这些特定的模型允许在大脑发育的不同时间逆转突变，并最终在特定的大脑区域逆转突变。目标是缩小发育关键期，在此期间，此类突变导致大脑功能改变和非典型行为。这些信息将使科学家们能够特别关注对非典型行为产生至关重要的时间段和大脑区域。此外，这些研究将证实遗传和某些药理学方法治疗遗传形式的自闭症的可行性。迄今为止取得的进展是巨大的，因为已经建立了与自闭症有关的遗传可逆突变小鼠模型，并开始进行表征。

英文摘要

DESCRIPTION (provided by applicant): Autism spectrum disorders (ASDs) are common, debilitating disorders affecting social interaction, communication, and repetitive behaviors. Recent genetic findings have identified mutations in synaptic cell adhesion genes and genes encoding their interacting protein partners at central synapses as genetic causes of autism spectrum disorders. This proposal will characterize novel and innovative autism mouse models that allow for brain development to take place with a genetic mutation. These particular models allow for reversal of the mutation at various times during brain development and ultimately in specific brain regions. The goal is to narrow the developmental critical period during which such mutations lead to altered brain function and atypical behavior. This information will allow scientists to focus specifically on the time periods and brain regions critical for generation of atypical behavior. In addition, these studies will substantiate feasibility of genetic and certain pharmacological approaches to treatment of a genetic form of autism. Progress to date is substantial in that the genetically reversible mutant mouse models related to autism have been established and characterization has begun.

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