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The RDoC approach for translational psychiatry: Could a genetic disorder with psychiatric symptoms help fill the matrix? the example of Prader-Willi syndrome.
Translational Psychiatry ( IF 5.8 ) Pub Date : 2020-08-08 , DOI: 10.1038/s41398-020-00964-6
Juliette Salles 1, 2, 3, 4 , Emmanuelle Lacassagne 3 , Grégoire Benvegnu 2, 5 , Sophie Çabal Berthoumieu 2, 5 , Nicolas Franchitto 1, 6 , Maithé Tauber 1, 3, 4, 5
Affiliation  

The Research Domain Criteria project (RDoc) proposes a new classification system based on information from several fields in order to encourage translational perspectives. Nevertheless, integrating genetic markers into this classification has remained difficult because of the lack of powerful associations between targeted genes and RDoC domains. We hypothesized that genetic diseases with psychiatric manifestations would be good models for RDoC gene investigations and would thereby extend the translational approach to involve targeted gene pathways. To explore this possibility, we reviewed the current knowledge on Prader–Willi syndrome, a genetic disorder caused by the absence of expression of some of the genes of the chromosome 15q11–13 region inherited from the father. Indeed, we found that the associations between genes of the PW locus and the modification identified in the relevant behavioral, physiological, and brain imaging studies followed the structure of the RDoC matrix and its six domains (positive valence, negative valence, social processing, cognitive systems, arousal/regulatory systems, and sensorimotor systems).



中文翻译:

用于转化性精神病学的RDoC方法:具有精神病症状的遗传性疾病是否可以帮助填充矩阵?普拉德-威利综合症的例子。

“研究领域标准”项目(RDoc)提出了一种基于来自多个领域的信息的新分类系统,以鼓励翻译观点。然而,由于靶向基因和RDoC结构域之间缺乏强有力的联系,将遗传标记整合到这种分类中仍然很困难。我们假设具有精神病表现的遗传疾病将是RDoC基因研究的良好模型,从而将翻译方法扩展到涉及靶向基因途径。为了探索这种可能性,我们回顾了有关Prader-Willi综合征的知识,Prader-Willi综合征是一种遗传疾病,是由父亲遗传的15q11-13染色体区域某些基因的缺乏表达引起的。确实,

更新日期:2020-08-09
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