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RNA Expression Patterns in Autism

自闭症中的 RNA 表达模式

基本信息

批准号：
8037130
负责人：
LOUIS M KUNKEL
金额：
$ 70.55万
依托单位：
BOSTON CHILDREN'S HOSPITAL
依托单位国家：
美国
项目类别：
财政年份：
2008
资助国家：
美国
起止时间：
2008-07-22 至 2013-02-28
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8037130
关键词：
Affect Asperger Syndrome Autistic Disorder Behavior Biochemical Pathway Bioinformatics Brain Candidate Disease Gene Characteristics Chromosomal Rearrangement Code Congenital chromosomal disease Defect Development Diagnosis Diagnostic tests Disease Environment Environmental Risk Factor Epigenetic Process Family Functional RNA Gene Expression Gene Expression Profile Genes Genetic Genetic Predisposition to Disease Genetic Transcription Genome Heritability Incidence Individual Lead Malignant Neoplasms Mediating Minor Molecular Molecular Genetics Molecular Profiling Monozygotic Twinning Monozygotic twins Mutation Myotonic Dystrophy Neurologic Neurons Parents Pathogenesis Patients Pattern Penetrance Peripheral Blood Lymphocyte Pervasive Development Disorder Phenotype Play Process RNA Splicing Regulatory Element Research Rett Syndrome Role Shapes Signal Transduction Specific qualifier value Staging Synapses Therapeutic Studies Transcript Variant Work autism spectrum disorder base brain shape cohort developmental disease disability experience family genetics genetic linkage improved neuron development novel novel strategies peripheral blood programs success

项目摘要

The Autism Spectrum Disorders (ASD) encompass a spectrum of disorders which include autism, Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS), Asperger"s disorder and Rett syndrome. The working hypothesis of this proposal is that individuals with ASD experience disturbances in the intricate interplay between genetic predisposition, environmental triggers and experience-mediated neuronal activity during a sensitive period of development, and that this leads to an altered program of gene expression. Thus the neurological disabilities that are characteristic of the disorder result from genetic variability in the processes of synaptic development, maturation, refinement, and connectivity that normally shape the brain, and from an environmental insult that perturbs normal experience-dependant synaptic development. This proposal offers a novel approach aimed at unraveling the genetic mechanisms, improving diagnosis, deciphering the interplay between environment and genetics, and developing rational approaches to therapy.

自闭症谱系障碍（ASD）包括一系列障碍，包括自闭症，广泛性发育障碍-未另行说明（PDD-NOS）、普氏症和Rett 综合征这项提议的工作假设是，ASD患者在大脑中经历了干扰。遗传易感性、环境触发因素和经验介导的神经元之间错综复杂的相互作用在发育的敏感期，这会导致基因表达程序的改变。因此，作为该疾病特征的神经功能障碍是由遗传变异引起的。突触发育、成熟、完善和连接的过程，这些过程通常会塑造大脑，因为环境的伤害扰乱了正常的经验依赖性突触发育。这项建议提供了一种新的方法，旨在解开遗传机制，改善诊断，破译环境和遗传学之间的相互作用，并制定合理的治疗方法。