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儿茶酚-O-甲基转移酶基因多态性对神经和精神疾病的影响:向个性化医疗迈进

Effect of Catechol-O-Methyltransferase Genotype Polymorphism on Neurological and Psychiatric Disorders: Progressing Towards Personalized Medicine.

作者信息

Srivastava Kosha, Ochuba Olive, Sandhu Jasmine K, Alkayyali Tasnim, Ruo Sheila W, Waqar Ahsan, Jain Ashish, Joseph Christine, Poudel Sujan

机构信息

Neurology, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA.

Internal Medicine, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA.

出版信息

Cureus. 2021 Sep 27;13(9):e18311. doi: 10.7759/cureus.18311. eCollection 2021 Sep.

Abstract

Different polymorphisms of the catechol-O-methyltransferase (COMT) gene affect the COMT enzyme activity. The COMT enzyme plays a major role in the pathophysiology of various neurological and psychiatric disorders. This review article aims to discuss what recent research has discovered about the association of COMT genotype polymorphism with neurological and psychiatric disorders and the scope for the knowledge to be applied for advancement in therapeutics. We searched PubMed and Google Scholar databases and found 1656 articles. We included observational studies, clinical trials, and meta-analyses in the English language published between 2019 and 2021. We screened the articles based on the title and the abstract and found 26 relevant articles. Diseases or conditions studied primarily were schizophrenia, Parkinson's disease, Alzheimer's disease, substance use, and depression. This article highlights how genetics influences the susceptibility of an individual to neurological and psychiatric diseases and the variations in the specific symptoms of those diseases. The review showed that the variability in individual response to therapeutic interventions stems from the gene level. This knowledge can contribute towards the dawn of a new era of personalized medicine.

摘要

儿茶酚-O-甲基转移酶(COMT)基因的不同多态性会影响COMT酶的活性。COMT酶在各种神经和精神疾病的病理生理学中起主要作用。这篇综述文章旨在探讨最近的研究在COMT基因多态性与神经和精神疾病的关联方面有哪些发现,以及这些知识在治疗学进展中的应用范围。我们检索了PubMed和谷歌学术数据库,共找到1656篇文章。我们纳入了2019年至2021年间发表的英文观察性研究、临床试验和荟萃分析。我们根据标题和摘要对文章进行筛选,共找到26篇相关文章。主要研究的疾病或状况包括精神分裂症、帕金森病、阿尔茨海默病、物质使用和抑郁症。本文强调了遗传学如何影响个体对神经和精神疾病的易感性以及这些疾病特定症状的差异。综述表明,个体对治疗干预反应的变异性源于基因水平。这一知识有助于开启个性化医疗的新时代。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90cc/8553290/060101eb5d2b/cureus-0013-00000018311-i01.jpg

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