在神经发育障碍和中NMDA受体变异的频谱
Cathrine E Gjerulfsen1, Ilona Krey2, Chiara Klöckner2
1Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
Methods in molecular biology (Clifton, N.J.)
|May 10, 2024
概括
在N-甲基-D-酸盐受体 (NMDAR) 基因的遗传变异导致神经发育障碍. 了解这些变异是开发针对性治疗等疾病的关键.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- N-甲基-D-酸盐受体 (NMDARs) 对大脑功能至关重要,包括发育,认知和运动控制.
- GRIN基因 (编码NMDAR子单元) 中的致病变体导致各种神经发育障碍和.
- 这些变体可以改变NMDAR的功能,导致功能丧失,功能增加或混合效应.
研究的目的:
- 了解NMDAR基因中的遗传变异如何影响受体功能.
- 为开发针对GRIN相关疾病的向治疗奠定基础.
主要方法:
- 分析GRIN基因中的遗传变异.
- 具有已识别变异的NMDARs的功能研究 (详细信息未提供摘要).
主要成果:
- NMDAR基因中的遗传变异与一系列神经发育障碍和有关.
- 孟坦丁在一些具有功能的GRIN2A变异的患者中,在减少发作方面表现出有效性.
- 在GRIN2B功能丧失或零变异的患者中,L-氨酸改善了结果.
结论:
- 了解NMDAR遗传变异的影响对于有针对性的治疗开发至关重要.
- 目前对GRIN相关疾病的治疗选择有限,但使用特定药物如孟坦丁和L-氨酸有希望.
相关概念视频
Antiepileptic Drugs: Glutamate Antagonists
321
Glutamate is a fundamental neurotransmitter in the central nervous system, playing a vital role in neuronal communication and various cognitive processes. Glutamate stands as the principal excitatory neurotransmitter in the brain. Its presence is crucial for the communication between neurons, underpinning essential processes such as synaptic transmission, neuronal excitability, and plasticity. These functions are vital for higher-order cognitive processes, including learning and memory. The...
321
Arteries of the Lower Limbs
188
Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
188
Seizures: Classification
339
Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
339
Ligand-Gated Ion Channel Receptor: Gating Mechanism
2.2K
Ligand-gated ion channels are transmembrane proteins that play a vital role in intercellular communication and functions of the nervous system. They allow the influx of ions across the membrane once the neurotransmitter binds, allowing the subsequent transmission of electrical excitation across the neurons. Other ligand-gated ion channels, like the γ-aminobutyric acid (GABA) receptor, permit anions like chloride into the cells on the binding of the GABA molecule. Their entry into the cell...
2.2K
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein
287
Antiepileptic drugs, such as levetiracetam (Keppra) and brivaracetam (Briviact), have emerged as crucial tools in managing epilepsy. These medications exert their therapeutic effects by targeting the synaptic vesicle protein SV2A, a transmembrane glycoprotein primarily found in the brain.
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
287


