遗传代谢性疾病作为精神障碍研究的多系统模型

Q3 Medicine

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI:10.1590/2326-4594-JIEMS-2020-0015

G. Rukavishnikov, E. Kasyanov, T. Zhilyaeva, N. Neznanov, G. Mazo

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引用次数: 2

摘要

最近的生物学和遗传学研究数据证实了遗传代谢性疾病和精神障碍的共同病理机制。我们建议为进一步研究增效杂合性模型可以成为一个方便的工具。在这种情况下，使用遗传代谢紊乱作为多系统研究模型可以提供重要的理论和实践结果。在这个假设评估的初始阶段，似乎有效筛选精神症状的患者的家庭遗传代谢障碍。

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Inherited Metabolic Diseases as a Multisystem Model of Mental Disorders Research

Recent biological and genetic research data confirm shared pathological mechanisms of inherited metabolic diseases and mental disorders. We suggest that for further research a model of synergistic heterozygosity can become a convenient tool. In that case the use of inherited metabolic disorders as a multisystem research model can provide both significant theoretical and practical results. At the initial stage of this hypothesis evaluation, it seems efficient to screen for mental symptoms the families of patients with inherited metabolic disorders.

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来源期刊

Journal of Inborn Errors of Metabolism and Screening

CiteScore

0.60

自引率

0.00%

发文量

审稿时长

12 weeks

期刊介绍： The Journal of Inborn Errors of Metabolism and Screening (JIEMS) is an online peer-reviewed open access journal devoted to publishing clinical and experimental research in inherited metabolic disorders and screening, for health professionals and scientists. Original research articles published in JIEMS range from basic findings that have implications for disease pathogenesis and therapy, passing through diagnosis and screening of metabolic diseases and genetic conditions, and therapy development and outcomes as well. Original articles, reviews on specific topics, brief communications and case reports are welcome. JIEMS aims to become a key resource for geneticists, genetic counselors, biochemists, molecular biologists, reproductive medicine researchers, obstetricians/gynecologists, neonatologists, pediatricians, pathologists and other health professionals interested in inborn errors of metabolism and screening.