Intracellular folate distribution in cultured fibroblasts from patients with the fragile X syndrome.
Altered folate metabolism has been suggested as a possible reason for expression of the fragile X chromosome in low-folate medium. However, there were no significant differences in the total folate content or in the distribution of folate cofactors between fibroblasts from patients with the fragile X chromosome and those of controls both before and after a period of folate starvation. Fragile X and control fibroblasts lose folate at an equivalent rate. Insofar as folate content and distribution reflect a primary abnormality of folate metabolism, there appears to be no such abnormality in the fragile X syndrome.
D000328:Adult; D002478:Cells, Cultured; D002675:Child, Preschool; D003470:Culture Media; D005347:Fibroblasts / Q000378:metabolism; D005492:Folic Acid / Q000378:metabolism*; D005600:Fragile X Syndrome / Q000209:etiology / Q000378:metabolism*; D006801:Humans; D066298:In Vitro Techniques; D007223:Infant; D008297:Male; D008875:Middle Aged; D012729:Sex Chromosome Aberrations / Q000378:metabolism*
D003470:Culture Media; D005492:Folic Acid