Becker-Wegerich P, Steuber M, Olbrisch R, Ruzicka T, Auburger G, Hofhaus G
Hautklinik, Heinrich-Heine-Universität, Düsseldorf, Germany.
Arch Dermatol Res. 1998 Dec;290(12):652-5. doi: 10.1007/s004030050368.
Using lymphocytes from nine unrelated patients with multiple symmetric lipomatosis we investigated a possible defect in the mitochondrial respiratory chain as the biochemical cause for the disease. A significant decrease in oxygen consumption of intact lymphocytes as well as a decreased activity of the individual components of the respiratory chain were detected. These findings are consistent with the recently described deletions and point mutations of mitochondrial DNA in patients suffering from this disease.
我们使用来自9名患多发性对称性脂肪瘤病的非亲缘患者的淋巴细胞，研究了线粒体呼吸链中可能存在的缺陷，以此作为该疾病的生化病因。检测到完整淋巴细胞的耗氧量显著降低，以及呼吸链各个组分的活性下降。这些发现与最近所描述的患该疾病患者线粒体DNA的缺失和点突变相一致。
