Myotonic muscular dystrophy: defective phospholipid metabolism in the erythrocyte plasma membrane.
Myotonic muscular dystrophy: defective phospholipid metabolism in the erythrocyte plasma membrane.
复制标题
强直性肌营养不良：红细胞质膜中的磷脂代谢缺陷。
DOI：
10.1172/jci109812
复制
发表时间：
1980
期刊：
影响因子：
--
通讯作者：
Roses,AD
中科院分区：
文献类型：
--
作者：
Grey,JE;Gitelman,HJ;Roses,AD
Myotonic muscular dystrophy (MyD) is a systemic genetic disorder that is thought to result from a generalized cellular membrane defect although the exact nature of this defect is unknown. This study examines two calcium-dependent membrane processes that have been observed in erythrocytes from healthy individuals: calcium-stimulated phosphatidic acid accumulation and calcium-induced potassium leak. We find that erythrocytes from MyD patients, in contrast to controls, have markedly impaired phosphatidic acid accumulations while maintaining normal potassium leaks. The calcium uptakes and ATP contents of MyD erythrocytes are not different from controls. We conclude that phospholipid metabolism is altered in MyD erythrocytes. The specificity of this abnormality and its relationship to altered muscular function are not known.
