Kieras F J, Brown W T, Houck G E, Zebrower M
Biochem Med Metab Biol. 1986 Dec;36(3):276-82. doi: 10.1016/0885-4505(86)90136-2.
Werner's syndrome and Hutchinson-Gilford progeria syndrome (progeria) are human genetic diseases which may serve as models for the study of premature aging. The basic defects underlying these diseases are unknown. An abnormally high level of urinary hyaluronic acid (HA) excretion has been previously reported in several Werner's and one progeria subject, all from Japan. To determine if a high HA level is a reliable marker for these diseases, we quantitated the urinary excretion of HA in three progeria subjects, one subject with an atypical progeroid syndrome, and a Werner's syndrome subject. Compared to controls, the total urinary HA was found to be markedly increased in the three progeria samples and in the Werner's syndrome sample. These findings support the previous observations indicating elevated HA may be a specific marker for these diseases.
沃纳综合征和哈钦森-吉尔福德早衰综合征(早衰症)是人类遗传疾病,可作为研究早衰的模型。这些疾病的根本缺陷尚不清楚。此前有报道称,来自日本的数名沃纳综合征患者和一名早衰症患者尿透明质酸(HA)排泄水平异常高。为了确定高HA水平是否是这些疾病的可靠标志物,我们对三名早衰症患者、一名非典型类早衰综合征患者和一名沃纳综合征患者的尿HA排泄量进行了定量。与对照组相比,在三个早衰症样本和沃纳综合征样本中发现尿总HA显著增加。这些发现支持了之前的观察结果,表明HA升高可能是这些疾病的一个特异性标志物。