Werner’s syndrome: An underdiagnosed disorder resembling premature aging
Werner’s syndrome: An underdiagnosed disorder resembling premature aging
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维尔纳综合症：一种未确诊的疾病，导致过早衰老
作者：
T. Tollefsbol;H. Cohen
维尔纳综合征是一种遗传性节段性早衰综合征，表现为过早衰老。青少年白内障形成和皮肤萎缩是这种疾病最常见的特征。这种疾病的地理流行率差异似乎反映了不同程度的血缘关系。这种疾病的诊断频率低于基因分析建议的频率。我们的综述表明，年龄与这些患者培养的成纤维细胞的体外复制寿命之间存在反比关系。超过 91% 的维尔纳综合征成纤维细胞的体外寿命少于 20 次累积细胞群倍增，而只有 4.8% 的对照成纤维细胞的体外复制寿命如此缩短。来自其他节段性早衰综合症的培养成纤维细胞的复制寿命几乎没有缩短。尿透明质酸在维尔纳综合征中增加，与成纤维细胞培养一起可能有用，作为这种独特且明显诊断不足的疾病的潜在诊断辅助手段。
Werner’s syndrome is an inheritable segmental progeroid syndrome manifested by a premature senescent appearance. Juvenile cataract formation and cutaneous atrophy are the most common features of this disease. Differences in geographic prevalence of this disease appear to reflect varying levels of consanguinity. The diagnosis of this disorder is made less frequently than the frequency suggested by genetic analyses. Our review reveals that there is an inverse relationship between age and in vitro replicative lifespan of cultured fibroblasts from these patients. Greater than 91% of Werner’s syndrome fibroblasts have in vitro lifespans of less than 20 cumulative cell population doublings while only 4.8% of control fibroblasts have in vitro replicative lifespans so reduced. Cultured fibroblasts from other segmental progeroid syndromes are not nearly as reduced in replicative lifespans. Urinary hylauronir acid is increased in Werner’s syndrome, and may be useful, along with fibroblast culturing, as a potential diagnostic aid for this unique and apparently underdiagnosed disorder.