Malorni W, Straface E, Pagano G, Monti D, Zatterale A, Del Principe D, Deeva I B, Franceschi C, Masella R, Korkina L G
Department of Ultrastructures, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy.
FEBS Lett. 2000 Feb 25;468(2-3):125-8. doi: 10.1016/s0014-5793(00)01187-x.
Fanconi's anemia (FA) is a very rare genetically heterogeneous disease which has been hypothesized to be defective in the detoxification of reactive oxygen species. In this work we report the results obtained by morphometric and biochemical analyses on the red blood cells (RBCs) from FA patients. With respect to RBCs from healthy donors the following changes have been detected: (i) a variety of ultrastructural alterations, mainly surface blebbing typical of acanthocytes and stomatocytes; (ii) a significant quantitative increase of these altered forms; (iii) modifications of spectrin cytoskeleton network; (iv) an altered redox balance, e.g. a decreased catalase activity and significant variations in the GSSG/GSH ratio. We hypothesize that remodeling of the redox state occurring in FA patients results in cytoskeleton-associated alterations of red blood cell integrity and function.
范可尼贫血（FA）是一种非常罕见的遗传性异质性疾病，据推测其在活性氧解毒方面存在缺陷。在这项工作中，我们报告了对FA患者红细胞（RBC）进行形态计量学和生化分析所获得的结果。与健康供体的红细胞相比，检测到以下变化：（i）多种超微结构改变，主要是棘形红细胞和口形红细胞典型的表面起泡；（ii）这些改变形式的数量显著增加；（iii）血影蛋白细胞骨架网络的改变；（iv）氧化还原平衡改变，例如过氧化氢酶活性降低以及谷胱甘肽二硫化物/谷胱甘肽（GSSG/GSH）比值的显著变化。我们推测，FA患者体内发生的氧化还原状态重塑导致红细胞完整性和功能的细胞骨架相关改变。
