Ahmad S Rehan, Zeyaullah Md, Khan Mohammad Suhail, AlShahrani Abdullah M, Altijani Abdelrhman A Galaleldin, Ali Haroon, Dawria Adam, Mohieldin Ali, Alam Mohammad Shane, Mohamed Awad Osman Abdalla
Hiralal Mazumdar Memorial College for Women, West Bengal State University, Kolkata, India.
Department of Basic Medical Science, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia.
Front Pharmacol. 2024 Dec 20;15:1478964. doi: 10.3389/fphar.2024.1478964. eCollection 2024.
Neurodegenerative disorders such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and amyotrophic lateral sclerosis (ALS) are characterized by the progressive degeneration of neuronal structure and function, leading to severe cognitive and motor impairments. These conditions present significant challenges to healthcare systems, and traditional treatments often fail to account for genetic variability among patients, resulting in inconsistent therapeutic outcomes. Pharmacogenomics aims to tailor medical treatments based on an individual's genetic profile, thereby improving therapeutic efficacy and reducing adverse effects. This focused review explores the genetic factors influencing drug responses in neurodegenerative diseases and the potential of pharmacogenomics to revolutionize their treatment. Key genetic markers, such as the APOE ε4 allele in AD and the CYP2D6 polymorphisms in PD, are highlighted for their roles in modulating drug efficacy. Additionally, advancements in pharmacogenomic tools, including genome-wide association studies (GWAS), next-generation sequencing (NGS), and CRISPR-Cas9, are discussed for their contributions to personalized medicine. The application of pharmacogenomics in clinical practice and its prospects, including ethical and data integration challenges, are also examined.
神经退行性疾病，如阿尔茨海默病（AD）、帕金森病（PD）、亨廷顿病（HD）和肌萎缩侧索硬化症（ALS），其特征是神经元结构和功能的进行性退化，导致严重的认知和运动障碍。这些病症给医疗保健系统带来了重大挑战，传统治疗方法往往未能考虑患者之间的基因变异性，导致治疗效果不一致。药物基因组学旨在根据个体的基因特征定制医疗治疗方案，从而提高治疗效果并减少不良反应。这篇重点综述探讨了影响神经退行性疾病药物反应的遗传因素以及药物基因组学彻底改变其治疗方法的潜力。重点介绍了关键的遗传标记，如AD中的APOE ε4等位基因和PD中的CYP2D6多态性，它们在调节药物疗效方面的作用。此外，还讨论了药物基因组学工具的进展，包括全基因组关联研究（GWAS）、下一代测序（NGS）和CRISPR-Cas9，它们对个性化医疗的贡献。还研究了药物基因组学在临床实践中的应用及其前景，包括伦理和数据整合挑战。
