权益分类	功能权益	普通用户	{{item.name}}会员
{{category.name}}	{{benefitItem.name}}

Homeostatic Plasticity in Mouse Model of Jordan's Syndrome

乔丹氏综合症小鼠模型的稳态可塑性

基本信息

批准号：
10292029
负责人：
GRAEME W DAVIS
金额：
$ 24.23万
依托单位：
UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-07-15 至 2023-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10292029
关键词：
Acute Adult Affect Alzheimer&apos s Disease Brain Candidate Disease Gene Chemosensitization Data Disease Disease Progression Drosophila genome Drosophila genus Equilibrium Functional disorder Gene Mutation Genes Genetic Genetic Screening Hippocampus (Brain)Human Human Genetics Impairment Individual Insecta Intellectual functioning disability Jordan Knockout Mice Lead Learning Link Mammals Mental disorders Modeling Mus Mutant Strains Mice Mutate Mutation Neurosciences Onset of illness Orthologous Gene PPP2R5D gene Phosphoric Monoester Hydrolases Protein Phosphatase 2A Regulatory Subunit PR53 Proteins Research Risk Slice Substrate Specificity Synaptic Transmission Syndrome Testing Therapeutic Intervention Work autism spectrum disorder autosomal dominant mutation base gene conservation gene discovery genetic information genome-wide knockout animal loss of function loss of function mutation mouse model mutant nervous system disorder neuroprotection neurotransmission novel novel strategies novel therapeutics patient population presynaptic relating to nervous system severe intellectual disability synaptic function therapeutic development

项目摘要

ABSTRACT The identification of gene mutations that cause autism and syndromes associated with severe intellectual disability has greatly advanced both research and new therapeutic development. Yet, the mechanisms that link gene loss of function to impaired brain function remain poorly understood in almost every instance. There is a pressing need to elucidate how individual gene mutations lead to deficits in brain function, with the potential to identify common grounds for therapeutic intervention that will benefit the largest patient population. Recently, homeostatic plasticity was demonstrated to have a potent ability to counteract neurological disease onset and progression. This is referred to as Homeostatic Neuroprotection. Based on preliminary data, we propose that the mechanisms of homeostatic neuroprotection also apply to the onset and progression of impaired hippocampal function, based on work examining a new mouse model of severe intellectual disability. This work has the potential to open a new approach toward therapeutic development in psychiatric disease.

摘要导致自闭症和与严重智力障碍相关的综合征的基因突变的鉴定残疾极大地推动了研究和新的治疗方法的发展。然而，几乎在每一种情况下，对基因功能丧失到受损的脑功能仍然知之甚少。有一个迫切需要阐明个别基因突变如何导致大脑功能缺陷，并有可能确定治疗干预的共同基础，使最大的患者群体受益。最近，稳态可塑性被证明具有抵抗神经疾病发作的有效能力，进展这被称为稳态神经保护。根据初步数据，我们建议稳态神经保护的机制也适用于受损神经元的发病和进展。海马功能，基于对一种新的严重智力残疾小鼠模型的研究。这项工作有可能为精神疾病的治疗开发开辟一条新途径。