Beadle G F, Mackay I R, Whittingham S, Taggart G, Harris A W, Harrison L C
J Med. 1978;9(5):377-404.
A 34 year-old woman with Werner's syndrome has been studied in the light of the current concept that this disorder is a model of premature aging. Endocrine function assays revealed an abnormal glucose tolerance and in vivo insulin insensitivity after prednisolone, and ovarian failure. Immune function assays revealed hypo-responsiveness in skin tests for delayed hypersensitivity, a poorly sustained IgG anti-body response after immunization with flagellin, and a low count of colony-forming T lymphocytes in blood. Cultured fibroblasts had a very limited capacity to replicate in vitro, in comparison with donors of similar age and, moreover, 85% of glucose-6-phosphate dehydrogenase in the patient's cultured fibroblasts was heat-stable at 60 degrees C compared with 100% for a healthy control. Cell receptors (for insulin) were examined by insulin binding to isolated fat-cells, with the finding that fat-cells were abnormally large for the patient's size, and their receptor density was low. The findings from the study point to a genetic defect in Werner's syndrome which, in its effect on particular tissues, may simulate features of aging, but the disease is not a true model of premature aging.
一名患有沃纳综合征的34岁女性，根据目前认为该疾病是早衰模型的概念进行了研究。内分泌功能检测显示葡萄糖耐量异常，服用泼尼松龙后体内存在胰岛素抵抗，以及卵巢功能衰竭。免疫功能检测显示迟发型超敏反应皮肤试验反应低下，接种鞭毛蛋白后IgG抗体反应维持不佳，血液中集落形成T淋巴细胞计数低。与年龄相仿的供体相比，培养的成纤维细胞在体外的复制能力非常有限，此外，患者培养的成纤维细胞中85%的葡萄糖-6-磷酸脱氢酶在60摄氏度时是热稳定的，而健康对照为100%。通过胰岛素与分离的脂肪细胞结合来检测细胞受体（胰岛素受体），发现就患者的体型而言，脂肪细胞异常大，且其受体密度低。该研究结果表明沃纳综合征存在遗传缺陷，其对特定组织的影响可能类似衰老特征，但该疾病并非真正的早衰模型。
