Paton B C, Poulos A
J Inherit Metab Dis. 1984;7(3):112-6. doi: 10.1007/BF01801766.
Dolichol metabolism was investigated in skin fibroblast cultures from normal individuals and patients with Batten's disease. Incorporation of [3H]mevalonolactone and [14C]acetate into the dolichol fraction of total lipid extracts was similar in cells from normal individuals and patients with Batten's disease. [14C]Acetate incorporation into dolichol in non-saponifiable lipid extracts was compared with incorporation into dolichol in total lipid extracts, and no difference in the proportion of dolichol esterified to fatty acids was found in Batten's cells as compared to normal cells. The rate of loss of radioactivity from the dolichol pool after prelabelling with [14C]acetate was also similar in cells from Batten's and normal individuals. Thus, in the fibroblast system used, no evidence was found to support the hypothesis that Batten's disease is due to a defect in dolichol metabolism.
在来自正常个体和巴顿病患者的皮肤成纤维细胞培养物中研究了多萜醇代谢。正常个体和巴顿病患者细胞中，[3H]甲羟戊酸内酯和[14C]乙酸掺入总脂质提取物的多萜醇部分的情况相似。将[14C]乙酸掺入非皂化脂质提取物中的多萜醇与掺入总脂质提取物中的多萜醇进行比较，结果发现，与正常细胞相比，巴顿病细胞中多萜醇酯化脂肪酸的比例没有差异。用[14C]乙酸预标记后，巴顿病患者和正常个体细胞中多萜醇池放射性的损失率也相似。因此，在所使用的成纤维细胞系统中，没有证据支持巴顿病是由于多萜醇代谢缺陷所致这一假说。
