Folate metabolism in cells from fragile X syndrome patients and carriers.
Folate metabolism in cells from fragile X syndrome patients and carriers.
复制标题
脆性 X 综合征患者和携带者细胞中的叶酸代谢。
DOI：
10.1002/ajmg.1320170123
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发表时间：
1984
期刊：
影响因子：
--
通讯作者：
Erbe,RW
中科院分区：
文献类型：
--
作者：
Wang,JC;Erbe,RW
Xq 27脆性位点的体外叶酸敏感性和给予叶酸的患者的有益反应的主张促使我们检查从脆性X综合征患者和携带者培养的细胞中的叶酸代谢。使用Epstein巴尔病毒，我们从4名脆性X综合征男性和来自7个家族的3名携带者中建立了永久性淋巴母细胞系。当在收获前24小时向培养物中加入0.1 μ M 5-氟脱氧尿苷（FUdR）时，所有这些细胞系均表达脆性位点;因此，这些细胞系似乎适合于寻找内在缺陷。脆性X综合征患者和携带者细胞系和正常对照细胞系在生长所需叶酸、使用同型半胱氨酸代替蛋氨酸的能力、利用还原叶酸作为唯一叶酸来源的能力或甲氨蝶呤敏感性方面没有差异。这些结果提示脆性X综合征细胞中叶酸代谢没有内在缺陷。
Thein vitrofolate sensitivity of the fragile site at Xq27 and the claims of a beneficial response of patients given folic acid prompted us to examine the folate metabolism in cells cultured from fragile X syndrome patients and carriers. Using Epstein‐Barr virus we established permanent lymphoblastoid lines from 4 fragile X syndrome males and 3 carriers from 7 families. All these lines expressed the fragile site when 0.1 μ M 5‐fluorodeoxyuridine(FUdR) was added to the cultures 24 hr prior to harvest; thus, the 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, the ability to use homocysteine in place of methionine, the ability to utilize reduced folates as the sole folate source, or methotrexate sensitivity. These results suggest that no intrinsic defect in folate metabolism is present in fragile X syndrome cells.