Psychosis-related Physiological and Neuronal Phenotypes in 22q11 Deletion Syndrome

22q11 缺失综合征中精神病相关的生理和神经表型

基本信息

  • 批准号:
    10468740
  • 负责人:
  • 金额:
    $ 64.84万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2019
  • 资助国家:
    美国
  • 起止时间:
    2019-09-01 至 2024-07-31
  • 项目状态:
    已结题

项目摘要

Project Summary In this revised proposal, we plan to examine the physiological and synaptic properties of pluripotent stem cell (iPSC)-derived neurons, as well as schizophrenia (SCZ)-related physiological phenotypes, gathered from patients with 22q11 Deletion Syndrome (22q11DS). The syndrome associates with a 20-30 fold increase in the risk for schizophrenia. 20-30% of patients with 22q11DS develop SCZ by early adulthood. The acoustic startle response (ASR) is an evolutionarily conserved reflex, aspects of which differ in SCZ compared to healthy controls. Prior work on non-22q11DS individuals at high risk for SCZ based on their phenotypic characteristics (i.e., those with prodromal symptoms) suggest that the latency of ASR predicts conversion to SCZ. Mismatch negativity (MMN) is an evoked potential in response to unusual or “oddball” acoustic stimuli imbedded within a train of repetitive acoustic stimuli. Impaired generation of an enhanced response to the oddball stimuli is the well-replicated MMN abnormality seen in SCZ. Our proposed work will examine ASR measures and MMN in older adolescents and young adults with 22q11DS (and healthy controls) to test the hypothesis that latency of the ASR and/or MMN will predict severity of prodromal symptoms, and ultimately conversion to SCZ, in this genetically defined high-risk group. Simultaneously we will study potential cellular mechanisms related to ASR and MMN in iPSC-derived neurons from 22q11DS patients exhibiting extreme values of latency to startle in the ASR. We hypothesize that doing so will identify potential cellular mechanisms underlying the phenotypic impact of the 22q11 deletion (including elevated risk for SCZ). This research will thus shed light on how genetic mechanisms alter cellular properties relevant to clinical and physiological differences observed in SCZ and the SCZ prodrome.
项目总结

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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Joseph F. Cubells其他文献

421. Associated Impairments in Neurocognition and Psychophysiological Biomarkers for Psychosis Risk in Individuals With 22q11.2 Deletion Syndrome
  • DOI:
    10.1016/j.biopsych.2024.02.920
  • 发表时间:
    2024-05-15
  • 期刊:
  • 影响因子:
  • 作者:
    Gabrielle Ruban;David Parker;Sidney Imes;Brett Henshey;Nicholas Massa;Grace Lee;Bruce Cuthbert;Opal Ousley;Elaine Walker;Joseph F. Cubells;Erica Duncan
  • 通讯作者:
    Erica Duncan
A distinct cognitive profile in individuals with 3q29 deletion syndrome
3q29 缺失综合征个体的独特认知特征
Abnormal Neuronal Excitability and Excitatory Neurotransmission in a Human iPSC Model of 22q11.2 Deletion Syndrome
  • DOI:
    10.1016/j.biopsych.2024.02.045
  • 发表时间:
    2024-05-15
  • 期刊:
  • 影响因子:
  • 作者:
    Jidong Guo;Weibo Niu;Bruce Cuthbert;Brett Henshey;Nicholas Massa;Opal Ousley;David Parker;Bradley Pearce;Elaine Walker;Joseph F. Cubells;Erica Duncan;Zhexing Wen
  • 通讯作者:
    Zhexing Wen
Random forest and Shapley Additive exPlanations predict oxytocin targeted effects on brain functional networks involved in salience and sensorimotor processing, in a randomized clinical trial in autism
在一项针对自闭症的随机临床试验中,随机森林和夏普利加性解释预测了催产素对涉及显著性和感觉运动处理的大脑功能网络的靶向效应。
  • DOI:
    10.1038/s41386-025-02095-2
  • 发表时间:
    2025-04-02
  • 期刊:
  • 影响因子:
    7.100
  • 作者:
    Elissar Andari;Kaundinya Gopinath;Erin O’Leary;Gabriella A. Caceres;Shota Nishitani;Alicia K. Smith;Opal Ousley;James K. Rilling;Joseph F. Cubells;Larry J. Young
  • 通讯作者:
    Larry J. Young
P481. Neuronal Hyperexcitability in a Human iPS Cell Model of 22q11.2 Deletion Syndrome
  • DOI:
    10.1016/j.biopsych.2022.02.717
  • 发表时间:
    2022-05-01
  • 期刊:
  • 影响因子:
  • 作者:
    Jidong Guo;Weibo Niu;Bruce Cuthbert;Brett Henshey;Andrew Jenkins;Nicholas Massa;Opal Ousley;David Parker;Bradley Pearce;Elaine Walker;Joseph F. Cubells;Erica Duncan;Zhexing Wen
  • 通讯作者:
    Zhexing Wen

Joseph F. Cubells的其他文献

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{{ truncateString('Joseph F. Cubells', 18)}}的其他基金

Psychosis-related Physiological and Neuronal Phenotypes in 22q11 Deletion Syndrome
22q11 缺失综合征中精神病相关的生理和神经表型
  • 批准号:
    10670277
  • 财政年份:
    2019
  • 资助金额:
    $ 64.84万
  • 项目类别:
Psychosis-related Physiological and Neuronal Phenotypes in 22q11 Deletion Syndrome
22q11 缺失综合征中精神病相关的生理和神经表型
  • 批准号:
    10238027
  • 财政年份:
    2019
  • 资助金额:
    $ 64.84万
  • 项目类别:
Psychosis-related Physiological and Neuronal Phenotypes in 22q11 Deletion Syndrome
22q11 缺失综合征中精神病相关的生理和神经表型
  • 批准号:
    10005473
  • 财政年份:
    2019
  • 资助金额:
    $ 64.84万
  • 项目类别:
Translational analysis of functional variation in human dopamine beta?hydroxylase
人多巴胺β羟化酶功能变异的翻译分析
  • 批准号:
    8298987
  • 财政年份:
    2011
  • 资助金额:
    $ 64.84万
  • 项目类别:
Translational analysis of functional variation in human dopamine beta?hydroxylase
人多巴胺β羟化酶功能变异的翻译分析
  • 批准号:
    8191158
  • 财政年份:
    2011
  • 资助金额:
    $ 64.84万
  • 项目类别:
Genetic Modulators of HPA-Axis Regulation, Stress Sensitivity
HPA 轴调节、应激敏感性的遗传调节剂
  • 批准号:
    8111194
  • 财政年份:
    2010
  • 资助金额:
    $ 64.84万
  • 项目类别:
Secondary Research Project: Genetics
二级研究项目:遗传学
  • 批准号:
    8119600
  • 财政年份:
    2010
  • 资助金额:
    $ 64.84万
  • 项目类别:
Genetic Modulators of HPA-Axis Regulation, Stress Sensitivity
HPA 轴调节、应激敏感性的遗传调节剂
  • 批准号:
    7931867
  • 财政年份:
    2009
  • 资助金额:
    $ 64.84万
  • 项目类别:
Secondary Research Project: Genetics
二级研究项目:遗传学
  • 批准号:
    7892512
  • 财政年份:
    2009
  • 资助金额:
    $ 64.84万
  • 项目类别:
Pharmacogenetics Core
药物遗传学核心
  • 批准号:
    7648024
  • 财政年份:
    2008
  • 资助金额:
    $ 64.84万
  • 项目类别:

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