McCormack M K, Ullman J, Lazzarini A
Am J Med Genet. 1982 Jan;11(1):53-9. doi: 10.1002/ajmg.1320110108.
We have studied in fresh and 24-hour incubated samples the osmotic fragility of erythrocytes from 13 individuals with Huntington disease (HD) and 22 at-risk, asymptomatic individuals. Five older at-risk, asymptomatic individuals and six Alzheimer disease individuals were also studied. Results suggest that osmotic fragility of red cells from HD individuals in significantly decreased in fresh (P less than 0.0001) and incubated (P less than 0.0001) samples. At-risk individuals appear to fall into two groups: 1) those with normal osmotic fragility (n =10), and 2) those with decreased osmotic fragility (n = 12). Fragility in older at-risk persons and those with Alzheimer disease were within normal limits. These data suggest that red cell osmotic fragility measurement may be useful to identify at-risk persons with an HD gene; however, longitudinal follow-up will be required to confirm the predictive power of this observation. These data suggest additional support for focusing on the erythrocyte in investigating the molecular pathogenesis of HD.
我们研究了13名亨廷顿病（HD）患者以及22名有患病风险的无症状个体的红细胞在新鲜样本和孵育24小时后的样本中的渗透脆性。还研究了5名年龄较大的有患病风险的无症状个体和6名阿尔茨海默病患者。结果表明，HD患者红细胞在新鲜样本（P<0.0001）和孵育样本（P<0.0001）中的渗透脆性显著降低。有患病风险的个体似乎分为两组：1）渗透脆性正常的个体（n = 10），以及2）渗透脆性降低的个体（n = 12）。年龄较大的有患病风险的个体和阿尔茨海默病患者的脆性在正常范围内。这些数据表明，红细胞渗透脆性测量可能有助于识别携带HD基因的有患病风险的个体；然而，需要进行纵向随访以证实这一观察结果的预测能力。这些数据为在研究HD的分子发病机制时关注红细胞提供了更多支持。
