遗传变异对阿尔茨海默氏症疗法的影响:药物遗传学进步的障碍
Ramón Cacabelos1, Olaia Martínez-Iglesias1, Natalia Cacabelos1
1EuroEspes Biomedical Research Center, International Center of Neuroscience and Genomic Medicine, Bergondo, Corunna, Spain.
Expert opinion on drug metabolism & toxicology
|January 21, 2025
概括
药物遗传学 (PGx) 可以通过减少药物不良反应来改善阿尔茨海默病 (AD) 治疗. 然而,诸如有限的基因信息和医学教育差距等挑战阻碍了其临床使用.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 药理学 药理学是指药理学的学科.
背景情况:
- 遗传负载显著影响阿尔茨海默病 (AD) 治疗疗效.
- 药物遗传学 (PGx) 提供了一种策略,以减轻多种药物治疗的AD患者的药物相互作用和不良反应.
研究的目的:
- 分析影响AD药物治疗的遗传因素.
- 检查遗传负载对多因素治疗结果的影响.
- 讨论有效实施PGx的实际方面.
主要方法:
- 对病原性,机械性,代谢性,载体和类基因的分析.
- 对AD的遗传关联的审查,包括脑血管 (CVn) 和神经退行性 (ADn) 基因.
- 评估特定基因变异 (例如,APOE-4,CYP2D6-PMs) 和它们对治疗反应的影响.
主要成果:
- 超过120个基因与阿尔茨海默氏症有关,APOE-4的携带者积累了更高的遗传负载,并经历了更早的疾病发病.
- 携带APOE-4携带者和CYP2D6低代谢者对抗痴呆药物反应最差.
- 药物特异性PGx数据不足,基因查小组有限,教育差距不足,阻碍了PGx的实施.
结论:
- 遗传因素,特别是特定基因变异的积累,极大地影响AD治疗结果.
- 解决数据,查和教育方面的局限性对于将PGx整合到AD常规护理中至关重要.
- 个性化药物遗传学方法有望优化AD治疗.
关键词:
与AD相关的基因与AD相关的基因在这里,APOEOE是APOE.阿尔茨海默氏症是阿尔茨海默氏症的一种疾病.年轻人计划 (CYPs)表观遗传学是指表观遗传学.代谢基因的代谢基因病原体负荷的产生药物遗传学 药物遗传学更多相关视频
10:02Assessment of Spontaneous Alternation, Novel Object Recognition and Limb Clasping in Transgenic Mouse Models of Amyloid-β and Tau Neuropathology
Published on: May 28, 2017
26.6K
04:41Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
18.9K
相关概念视频
01:22Alzheimer's Disease: Treatment
160
Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
160
01:26Alzheimer's Disease: Overview
439
Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
439
01:28Human Genetics
529
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
529
00:49What is Genetic Engineering?
73.5K
Overview
73.5K
01:19Factors Affecting Drug Biotransformation: Biological
104
Biological factors significantly impact drug metabolism, influencing drug clearance, efficacy, and potential toxicity.
Species differences: Variations in enzyme systems across species can cause disparities in drug metabolism. For instance, humans may metabolize certain drugs faster than rodents, altering therapeutic effects.
Strain differences: Genetic variations within a species can result in differing enzyme activity, impacting drug response and toxicity. For example, some mouse strains may...
Species differences: Variations in enzyme systems across species can cause disparities in drug metabolism. For instance, humans may metabolize certain drugs faster than rodents, altering therapeutic effects.
Strain differences: Genetic variations within a species can result in differing enzyme activity, impacting drug response and toxicity. For example, some mouse strains may...
104
01:09Mutation, Gene Flow, and Genetic Drift
57.9K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
57.9K