Godin D V, Bridges M A, MacLeod P J
Res Commun Chem Pathol Pharmacol. 1978 May;20(2):331-49.
Erythrocytes from patients with Duchenne muscular dystrophy (DMD) are known to possess a number of structural and functional abnormalities, including an increased osmotic fragility and potassium permeability, a decreased deformability and altered electrophoretic behaviour. To explore the possible chemical basis of these changes, the compositional properties of erythrocyte membranes from patients with DMD and a number of suspected carriers for this disorder have been investigated. Quantitative analyses of membrane cholesterol, sialic acid and major phospholipid classes were normal in both groups of individuals and no alterations in the arrangement of membrane amino and sulfhydryl groups could be detected. It is suggested that increased levels of cellular calcium, possibly occurring as the result of a defect in active calcium extrusion, could account for the structural and functional abnormalities of erythrocytes in DMD.
已知杜兴氏肌肉营养不良症(DMD)患者的红细胞存在许多结构和功能异常,包括渗透脆性增加、钾通透性增加、变形性降低和电泳行为改变。为了探究这些变化可能的化学基础,对DMD患者以及一些疑似该疾病携带者的红细胞膜组成特性进行了研究。两组个体的膜胆固醇、唾液酸和主要磷脂类别的定量分析均正常,且未检测到膜氨基和巯基排列的改变。有人提出,细胞钙水平升高可能是由于主动钙外排缺陷所致,这可能是DMD患者红细胞结构和功能异常的原因。