Reduced folate transport to the CNS in female Rett patients

摘要: Background: Previous CSF studies in Rett syndrome suggest reduced turnover of the biogenic monoamines serotonin and dopamine. Because diminished may result from CNS folate depletion, authors studied transport across blood–brain barrier. Methods: In four patients with syndrome, measured values 5-methyltetrahydrofolate (5MTHF), monoamine end-metabolites, pterins together serum red blood cell folate. CSF, overall binding capacity by two soluble folate-binding proteins FBP1 FBP2 (sFBP) was using a radioligand method for H 3 -labeled A specific immunoreactive test (ELISA) detected sFBP1, which normally contributes to 30 35% total capacity. Genetic analysis included DNA sequencing MECP2 , genes. Empirical treatment oral folinic acid evaluated. Results: Two without mutations gene had normal folate, homocysteine, methionine. all low 5MTHF, neopterin, end-metabolite 5-hydroxyindoleacetic (5-HIAA). genes results. Compared controls, sFBP1 whereas disproportionately lowered. normalized 5-MHTF 5-HIAA levels led partial clinical improvement. Conclusion: Irrespective genotype, 5MTHF transfer is syndrome. Folinic supplementation restores serotoninergic turnover. The lowered FBP not explained defect or gene, but most likely occurs as secondary phenomenon