Mokrasch L C
Life Sci. 1985 Sep 9;37(10):931-5. doi: 10.1016/0024-3205(85)90529-6.
In support of the widely held belief that membrane defects are present in the muscular dystrophies, alterations have been found in some transport-related enzymes of cells from affected donors. Cell membranes were isolated from cultured dermal fibroblasts of victims of myotonic muscular dystrophy, and of Duchenne's muscular dystrophy, and from cells of normal age- and sex-matched donors. Myotonic cells had an elevated Na+, K+ ATPase. gamma-Glutamyl transpeptidase was elevated in Duchenne cells. Among all cells' 5'nucleotide phosphatase exhibited a remarkably constant specific activity.
为支持广泛持有的观点,即膜缺陷存在于肌营养不良症中,已在来自受影响供体的细胞的一些与转运相关的酶中发现了改变。从强直性肌营养不良症患者、杜氏肌营养不良症患者的培养皮肤成纤维细胞以及年龄和性别匹配的正常供体的细胞中分离出细胞膜。强直性细胞的钠钾ATP酶升高。杜氏细胞中的γ-谷氨酰转肽酶升高。在所有细胞中,5'-核苷酸磷酸酶表现出非常恒定的比活性。