Byck S, Rosenblatt D S
MRC Genetics Group, Centre for Human Genetics, Montreal, Quebec.
Clin Invest Med. 1991 Apr;14(2):153-9.
Human skin fibroblasts derived from patients with all seven known inborn errors of vitamin B12 metabolism have been studied for functional integrity of methylmalonyl CoA mutase and methionine synthase. Cocultivation of cblC and cblF fibroblasts in the absence of polyethylene glycol resulted in a twofold increase over the expected in both [14C]propionate and [14C]methyltetrahydrofolate incorporation into acid-precipitable material, suggesting that metabolic cooperation between cells occurs. This correction in phenotype seems to be mutant class selective since cblD fibroblasts, which are biochemically similar to cblC cells, do not cooperate metabolically when mixed with cblF cells. These observations lend further support to the division of cblC and cblD diseases into discrete classes.
对源自所有七种已知维生素B12代谢先天性缺陷患者的人皮肤成纤维细胞进行了甲基丙二酰辅酶A变位酶和甲硫氨酸合酶功能完整性的研究。在不存在聚乙二醇的情况下，将cblC和cblF成纤维细胞共培养，导致掺入酸沉淀物质中的[14C]丙酸盐和[14C]甲基四氢叶酸比预期增加了两倍，这表明细胞间发生了代谢协作。这种表型校正似乎具有突变类型选择性，因为与cblC细胞在生化方面相似的cblD成纤维细胞与cblF细胞混合时不会发生代谢协作。这些观察结果进一步支持将cblC和cblD疾病分为不同类别。
