Folate metabolism in cells from fragile X syndrome patients and carriers

✍ Scribed by Wang, Jin-Chen C. ;Erbe, Richard W. ;Opitz, John M.

• Publisher: John Wiley and Sons
• Year: 1984
• Tongue: English
• Weight: 361 KB
• Volume: 17
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320170123

✦ Synopsis

The -in vitro folate sensitivity of t h e fragile s i t e a t Xq27 and t h e claims of a beneficial response of patients given folic acid prompted us to examine t h e folate metabolism in cells cultured from fragile X syndrome patients and carriers. Using Epstein-Barr virus we established permanent lyrnphoblastoid lines from 4 fragile X syndrome males and 3 carriers from 7 families. All these lines expressed t h e fragile site when 0.1 p M 5-fluorodeoxyuridine(FUdR) was added to t h e cultures 24 hr prior to harvest; thus, t h e lines seemed suitable for seeking an intrinsic defect.

Fragile X syndrome patient and carrier lines and normal control cell lines did not differ in regard to folate requirement for growth, t h e ability to use homocysteine in place of methionine, t h e ability to utilize reduced folates as t h e sole folate source, or methotrexate sensitivity. These results suggest t h a t no intrinsic defect in folate metabolism is present in fragile X syndrome cells.