Pathobiology of GNAL-Associated Dystonia

GNAL 相关肌张力障碍的病理学

基本信息

  • 批准号:
    10588155
  • 负责人:
  • 金额:
    $ 21.53万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2022
  • 资助国家:
    美国
  • 起止时间:
    2022-03-15 至 2025-02-28
  • 项目状态:
    未结题

项目摘要

Dystonia has recently been redefined as a “movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.” Dystonia is also a clinical sign that can be the presenting or prominent manifestation of many neurodegenerative and neurometabolic disorders. Etiological categories include isolated dystonia, secondary dystonia, heredodegenerative diseases with dystonia, and dystonia plus. Many cases of isolated dystonia are believed to be genetic in origin and mutations in GNAL may be the most prevalent known genetic cause of mainly adult- onset isolated dystonia. GNAL encodes Gα(olf) [major isoform] and XLGα(olf) [long isoform] which are both expressed in human striatum and cerebellum. The overall goals of our proposal are to use Gα(olf)/XLGα(olf) deficiency as a bridge to understand the cellular pathobiology of isolated dystonia, and employ conditional knock-out (cKO) mouse models to explore the neural circuitry that drives isolated dystonia. These goals will be achieved through three specific aims. First, we will determine the CNS localization of the major and long Gnal isoforms with cell-type specificity. Second, we will characterize the temporal changes in epigenetic marks (DNA methylation, histone modifications) and gene expression associated with Gα(olf)/XLGα(olf) deficiency in indirect pathway medium spiny neurons (iMSNs), direct pathway MSNs (dMSNs), and Purkinje cells (PCs). Third, we will determine the behavioral effects of Gnal cKO in iMSNs and PCs. Completion of these aims will radically expand upon our current understanding of isolated and tardive dystonia pathogenesis and Gα(olf)/XLGα(olf) signaling pathways.
肌张力障碍最近被重新定义为“以持续或间歇性为特征的运动障碍”

项目成果

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MARK S LEDOUX其他文献

MARK S LEDOUX的其他文献

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{{ truncateString('MARK S LEDOUX', 18)}}的其他基金

Pathobiology of GNAL-Associated Dystonia
GNAL 相关肌张力障碍的病理学
  • 批准号:
    10453157
  • 财政年份:
    2022
  • 资助金额:
    $ 21.53万
  • 项目类别:
Pathobiology and Treatment of the UBTF E210K Neuroregression Syndrome
UBTF E210K 神经退行综合征的病理学和治疗
  • 批准号:
    10416149
  • 财政年份:
    2021
  • 资助金额:
    $ 21.53万
  • 项目类别:
Genetics and Biology of CIZ1 in Cervical Dystonia
CIZ1 在宫颈肌张力障碍中的遗传学和生物学
  • 批准号:
    8853347
  • 财政年份:
    2013
  • 资助金额:
    $ 21.53万
  • 项目类别:
Genetics and Biology of CIZ1 in Cervical Dystonia
CIZ1 在宫颈肌张力障碍中的遗传学和生物学
  • 批准号:
    8631382
  • 财政年份:
    2013
  • 资助金额:
    $ 21.53万
  • 项目类别:
Genetics and Biology of CIZ1 in Cervical Dystonia
CIZ1 在宫颈肌张力障碍中的遗传学和生物学
  • 批准号:
    8734493
  • 财政年份:
    2013
  • 资助金额:
    $ 21.53万
  • 项目类别:
The Role of THAP1 in Dystonia
THAP1 在肌张力障碍中的作用
  • 批准号:
    8041487
  • 财政年份:
    2010
  • 资助金额:
    $ 21.53万
  • 项目类别:
The Role of THAP1 in Dystonia
THAP1 在肌张力障碍中的作用
  • 批准号:
    8131765
  • 财政年份:
    2010
  • 资助金额:
    $ 21.53万
  • 项目类别:
The Role of THAP1 in Dystonia
THAP1 在肌张力障碍中的作用
  • 批准号:
    8513424
  • 财政年份:
    2010
  • 资助金额:
    $ 21.53万
  • 项目类别:
The Role of THAP1 in Dystonia
THAP1 在肌张力障碍中的作用
  • 批准号:
    8318287
  • 财政年份:
    2010
  • 资助金额:
    $ 21.53万
  • 项目类别:
Mutant Gene Identification in the Dystonic Rat
肌张力障碍大鼠的突变基因鉴定
  • 批准号:
    7195769
  • 财政年份:
    2005
  • 资助金额:
    $ 21.53万
  • 项目类别:

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