Inserm UMRS 1256 NGERE-Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, F-54000 Nancy, France.
National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, F-54000 Nancy, France.
Cells. 2023 Apr 27;12(9):1267. doi: 10.3390/cells12091267.
Impairment of one-carbon metabolism during pregnancy, either due to nutritional deficiencies in B9 or B12 vitamins or caused by specific genetic defects, is often associated with neurological defects, including cognitive dysfunction that persists even after vitamin supplementation. Animal nutritional models do not allow for conclusions regarding the specific brain mechanisms that may be modulated by systemic compensations. Using the Cre-lox system associated to the neuronal promoter Thy1.2, a knock-out model for the methionine synthase specifically in the brain was generated. Our results on the neurobehavioral development of offspring show that the absence of methionine synthase did not lead to growth retardation, despite an effective reduction of both its expression and the methylation status in brain tissues. Behaviors were differently affected according to their functional outcome. Only temporary retardations were recorded in the acquisition of vegetative functions during the suckling period, compared to a dramatic reduction in cognitive performance after weaning. Investigation of the glutamatergic synapses in cognitive areas showed a reduction of AMPA receptors phosphorylation and clustering, indicating an epigenomic effect of the neuronal deficiency of methionine synthase on the reduction of glutamatergic synapses excitability. Altogether, our data indicate that cognitive impairment associated with methionine synthase deficiency may not only result from neurodevelopmental abnormalities, but may also be the consequence of alterations in functional plasticity of the brain.
在怀孕期间,一碳代谢的损伤,无论是由于维生素 B9 或 B12 的营养缺乏,还是由于特定的遗传缺陷引起的,通常与神经缺陷有关,包括认知功能障碍,即使在补充维生素后仍然存在。动物营养模型无法得出关于可能通过全身代偿调节的特定大脑机制的结论。使用与神经元启动子 Thy1.2 相关的 Cre-lox 系统,生成了一种特定在大脑中敲除蛋氨酸合酶的基因敲除模型。我们对后代神经行为发育的研究结果表明,尽管其在脑组织中的表达和甲基化状态都有效降低,但蛋氨酸合酶的缺失并没有导致生长迟缓。行为受到不同的影响,这取决于它们的功能结果。与断奶后认知能力显著下降相比,在哺乳期,只有在获得植物性功能时才会出现暂时的发育迟缓。在认知区域对谷氨酰胺能突触的研究表明,AMPA 受体的磷酸化和聚集减少,表明蛋氨酸合酶神经元缺乏对谷氨酸能突触兴奋性的降低具有表观遗传效应。总的来说,我们的数据表明,与蛋氨酸合酶缺乏相关的认知障碍可能不仅是由于神经发育异常引起的,还可能是大脑功能可塑性改变的结果。