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Priorities in the discovery of the implications of water channels in epilepsy and Duchenne muscular dystrophy.

机译:在癫痫和杜氏肌营养不良症中发现水通道的意义的重点。

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摘要

Folate and vitamin B12 are essential cofactors for the methionine/homocysteine cycle in the brain. These vitamins mediate the remethylation of homocysteine (HCY), which affects the production of the universal methyl donor, S-adenosylmethionine (SAM), in the brain among other organs. Acquired or inherited disorders in these metabolic pathways are associated with brain abnormalities and severe neurological symptoms that are mostly irreversible, even after providing the missing cofactors. This review discusses the relationship between brain and blood levels of key vitamins and metabolites related to one carbon metabolism.
机译:叶酸和维生素B12是大脑中蛋氨酸/高半胱氨酸循环的重要辅助因子。这些维生素介导高半胱氨酸(HCY)的再甲基化,这会影响大脑其他器官中通用甲基供体S-腺苷甲硫氨酸(SAM)的产生。这些代谢途径中的获得性或遗传性疾病与脑部异常和严重的神经系统症状相关,即使提供了缺失的辅因子后,这些症状通常也是不可逆的。这篇评论讨论了大脑和血液中与一种碳代谢有关的关键维生素和代谢物的水平之间的关系。

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