Genetic insights into neurodevelopment: the critical role of copy number variations in neurodevelopmental disorders

IF 3 Q2 PHARMACOLOGY & PHARMACY

Future Journal of Pharmaceutical Sciences Pub Date : 2025-09-17 DOI:10.1186/s43094-025-00879-3

Muqtada Shaikh, Gaurav Doshi

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引用次数: 0

Abstract

Neurodevelopmental disorders (NDDs) significantly affect brain development, leading to challenges in communication, learning, and emotional regulation. This review examines the role of genetic factors, particularly copy number variations (CNVs), and critical structural alterations in the genome that influence gene dosage and biological functions. We focus on key CNV regions, including 16p11.2, 22q11.2, 1q21.1, and 15q11.2, associated with various NDDs and their impact on cognitive and behavioral outcomes. CNVs can disrupt gene function, contributing to genetic instability and dysregulated pathways in NDDs. Acknowledging limitations in current literature, such as sample size and selection bias, we emphasize the need for a larger, more diverse population and longitudinal studies. Additionally, we identify gaps in understanding genetic-environmental interactions and suggest that advanced genomic technologies could enhance research. Understanding how CNVs influence DNA repair mechanisms may lead to potential interventions to mitigate genomic instability in NDDs.

Graphical abstract

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遗传洞察神经发育：拷贝数变异在神经发育障碍中的关键作用

神经发育障碍（ndd）显著影响大脑发育，导致沟通、学习和情绪调节方面的挑战。这篇综述探讨了遗传因素的作用，特别是拷贝数变异（CNVs），以及基因组中影响基因剂量和生物学功能的关键结构改变。我们重点研究了与各种ndd相关的关键CNV区域，包括16p11.2、22q11.2、1q21.1和15q11.2，以及它们对认知和行为结果的影响。CNVs可以破坏基因功能，导致ndd的遗传不稳定和通路失调。承认现有文献的局限性，如样本量和选择偏差，我们强调需要更大，更多样化的人群和纵向研究。此外，我们确定了理解遗传-环境相互作用的差距，并建议先进的基因组技术可以加强研究。了解CNVs如何影响DNA修复机制可能会导致潜在的干预措施，以减轻ndd的基因组不稳定性。图形抽象

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来源期刊

Future Journal of Pharmaceutical Sciences PHARMACOLOGY & PHARMACY-

自引率

0.00%

发文量

审稿时长

23 weeks

期刊介绍： Future Journal of Pharmaceutical Sciences (FJPS) is the official journal of the Future University in Egypt. It is a peer-reviewed, open access journal which publishes original research articles, review articles and case studies on all aspects of pharmaceutical sciences and technologies, pharmacy practice and related clinical aspects, and pharmacy education. The journal publishes articles covering developments in drug absorption and metabolism, pharmacokinetics and dynamics, drug delivery systems, drug targeting and nano-technology. It also covers development of new systems, methods and techniques in pharmacy education and practice. The scope of the journal also extends to cover advancements in toxicology, cell and molecular biology, biomedical research, clinical and pharmaceutical microbiology, pharmaceutical biotechnology, medicinal chemistry, phytochemistry and nutraceuticals.