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遗传学对认知的影响:对认知障碍和单核苷酸多态性的见解。

The Impact of Genetics on Cognition: Insights into Cognitive Disorders and Single Nucleotide Polymorphisms.

作者信息

Spoto Giulia, Di Rosa Gabriella, Nicotera Antonio Gennaro

机构信息

Unit of Child Neurology and Psychiatry, Department of Biomedical Sciences, Dental Sciences & Morphofunctional Imaging, University of Messina, 98125 Messina, Italy.

Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", University of Messina, 98125 Messina, Italy.

出版信息

J Pers Med. 2024 Jan 30;14(2):156. doi: 10.3390/jpm14020156.

Abstract

This article explores the complex relationship between genetics and cognition, specifically examining the impact of genetic variants, particularly single nucleotide polymorphisms (SNPs), on cognitive functions and the development of neuropsychiatric disorders. Focusing on neurotransmitter regulation within the prefrontal cortex's dopaminergic circuits, this study emphasizes the role of genes like COMT, PRODH, and DRD in shaping executive functions and influencing conditions such as ADHD and schizophrenia. Additionally, it explores the significance of genetic factors in neurodevelopmental disorders, emphasizing the need for early identification to guide appropriate therapeutic interventions. This article also investigates polymorphisms in the transsulfuration pathway, revealing their association with cognitive impairment diseases. Computational analyses, including machine learning algorithms, are highlighted for their potential in predicting symptom severity in ADHD based on genetic variations. In conclusion, this article underscores the intricate interplay of genetic and environmental factors in shaping cognitive outcomes, providing valuable insights for tailored treatments and a more comprehensive understanding of neuropsychiatric conditions.

摘要

本文探讨了遗传学与认知之间的复杂关系,特别研究了基因变异,尤其是单核苷酸多态性(SNP)对认知功能以及神经精神疾病发展的影响。本研究聚焦于前额叶皮质多巴胺能回路中的神经递质调节,强调了COMT、PRODH和DRD等基因在塑造执行功能以及影响注意缺陷多动障碍(ADHD)和精神分裂症等病症方面的作用。此外,它还探讨了遗传因素在神经发育障碍中的重要性,强调了早期识别以指导适当治疗干预的必要性。本文还研究了转硫途径中的多态性,揭示了它们与认知障碍疾病的关联。包括机器学习算法在内的计算分析因其基于基因变异预测ADHD症状严重程度的潜力而受到关注。总之,本文强调了遗传和环境因素在塑造认知结果方面的复杂相互作用,为个性化治疗以及对神经精神疾病更全面的理解提供了有价值的见解。

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