Neurogenetics Group, Centre for Neuroscience, Division of Brain Sciences, Department of Medicine, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, London, W12 0NN, UK.
Amino Acids. 2012 Nov;43(5):1823-31. doi: 10.1007/s00726-012-1385-9. Epub 2012 Aug 14.
A potential role for D-amino acids in motor neuron disease/amyotrophic lateral sclerosis (ALS) is emerging. D-Serine, which is an activator/co-agonist at the N-methyl-D-aspartate glutamate receptor subtype, is elevated both in spinal cord from sporadic cases of ALS and in an animal model of ALS. Furthermore, we have shown that a mutation in D-amino acid oxidase (DAO), an enzyme strongly localized to spinal cord motor neurons and brain stem motor nuclei, is associated with familial ALS. DAO plays an important role in regulating levels of D-serine, and its function is impaired by the presence of this mutation and this may contribute to the pathogenic process in ALS. In sporadic ALS cases, elevated D-serine may arise from induction of serine racemase, its synthetic enzyme, caused by cell stress and inflammatory processes thought to contribute to disease progression. Both these abnormalities in D-serine metabolism lead to an increase in synaptic D-serine which may contribute to disease pathogenesis.
D-氨基酸在运动神经元疾病/肌萎缩性侧索硬化症(ALS)中的作用逐渐显现。D-丝氨酸是 N-甲基-D-天冬氨酸谷氨酸受体亚型的激动剂/共激动剂,在散发性 ALS 脊髓和 ALS 动物模型中均升高。此外,我们还表明,D-氨基酸氧化酶(DAO)的突变与家族性 ALS 相关,DAO 是一种强烈定位于脊髓运动神经元和脑干运动核的酶。DAO 在调节 D-丝氨酸水平方面起着重要作用,其功能因存在这种突变而受损,这可能导致 ALS 的发病过程。在散发性 ALS 病例中,D-丝氨酸的升高可能是由于细胞应激和炎症过程引起的其合成酶——丝氨酸消旋酶的诱导所致,这些过程被认为有助于疾病进展。D-丝氨酸代谢的这两种异常都会导致突触 D-丝氨酸增加,这可能有助于疾病发病机制。