Physical Therapy Program (J.C.S.), Department of Exercise Science, University of South Carolina, Columbia; and Departments of Neurology, Anatomy & Neurobiology, and Physical Medicine & Rehabilitation (S.C.C.), University of California, Irvine.
J Neurol Phys Ther. 2017 Jul;41 Suppl 3(Suppl 3 IV STEP Spec Iss):S17-S23. doi: 10.1097/NPT.0000000000000180.
In many neurologic diagnoses, significant interindividual variability exists in the outcomes of rehabilitation. One factor that may impact response to rehabilitation interventions is genetic variation. Genetic variation refers to the presence of differences in the DNA sequence among individuals in a population. Genetic polymorphisms are variations that occur relatively commonly and, while not disease-causing, can impact the function of biological systems. The purpose of this article is to describe genetic polymorphisms that may impact neuroplasticity, motor learning, and recovery after stroke.
Genetic polymorphisms for brain-derived neurotrophic factor (BDNF), dopamine, and apolipoprotein E have been shown to impact neuroplasticity and motor learning. Rehabilitation interventions that rely on the molecular and cellular pathways of these factors may be impacted by the presence of the polymorphism. For example, it has been hypothesized that individuals with the BDNF polymorphism may show a decreased response to neuroplasticity-based interventions, decreased rate of learning, and overall less recovery after stroke. However, research to date has been limited and additional work is needed to fully understand the role of genetic variation in learning and recovery.
Genetic polymorphisms should be considered as possible predictors or covariates in studies that investigate neuroplasticity, motor learning, or motor recovery after stroke. Future predictive models of stroke recovery will likely include a combination of genetic factors and other traditional factors (eg, age, lesion type, corticospinal tract integrity) to determine an individual's expected response to a specific rehabilitation intervention.
在许多神经学诊断中，康复的结果存在显著的个体间差异。可能影响康复干预反应的一个因素是遗传变异。遗传变异是指在人群中个体的 DNA 序列存在差异。遗传多态性是指相对常见的变异，虽然不会导致疾病，但会影响生物系统的功能。本文旨在描述可能影响神经可塑性、运动学习和中风后恢复的遗传多态性。
脑源性神经营养因子（BDNF）、多巴胺和载脂蛋白 E 的遗传多态性已被证明会影响神经可塑性和运动学习。依赖这些因素的分子和细胞途径的康复干预可能会受到多态性的影响。例如，有人假设 BDNF 多态性的个体可能对基于神经可塑性的干预反应降低、学习速度降低以及中风后整体恢复减少。然而，迄今为止的研究有限，需要更多的工作来充分了解遗传变异在学习和恢复中的作用。
在研究中风后的神经可塑性、运动学习或运动恢复时，应考虑遗传多态性作为可能的预测因子或协变量。中风恢复的未来预测模型可能将包括遗传因素和其他传统因素（例如年龄、病变类型、皮质脊髓束完整性）的组合，以确定个体对特定康复干预的预期反应。
