Ruitenbeek W
Clin Chim Acta. 1978 Oct 2;89(1):99-110. doi: 10.1016/0009-8981(78)90365-0.
Ten lipid fractions, both neutral and phospholipids, were isolateed from erythrocytes of patients with Duchenne and congenital myotonic dystrophy. These fractions were: phosphatidylethanolamine, phosphatidylcholine, phosphatidylserine, sphingomyelin, lysophosphatidylcholine, phosphatidic acid, glycosphingolipids, triglycerides, diglycerides and one unknown. The fatty acid compositions were compared with control values. The major deviation was a decreased level of palmitoleic acid (16 : 1omega7) in three neutral lipid fractions. It was lowered from 9.1 to 1.3% in diglycerides and from 10.6 to 2.6% in triglycerides in myotonic dystrophy. In Duchenne muscular dystrophy this percentage was decreased from 9.1 to 4.0 in diglycerides. From blood plasma were isolated phosphatidylcholine, lysophosphatidylcholine, sphingomyelin and phosphatidylethanolamine. The myristic acid (14 : 0) content was raised in lysophosphatidylcholine (from 4.4 to 8.6%) and in sphingomyelin (from 3.3 to 5.0%) in myotonic dystrophy, In the latter phospholipid the stearic acid level was decreased from 18.6 to 12.8%. In phosphatidylcholine from plasma in myotonic dystrophy the level of eicosatrienoic acid (20 : 3omega6) was lowered from 3.1 to 2.0%. Plasma fractions from Duchenne dystrophy showed no deviation. The results do not constitute an explanation for the various biochemical abnormalities found in dystrophic erythrocytes. Neither do they point to a defect in a major pathway in lipid metabolism. However, an aberration in the de novo synthesis of lipids in immature red blood cells cannot be excluded.
从杜兴氏肌营养不良症和先天性强直性肌营养不良症患者的红细胞中分离出十种脂质组分，包括中性脂质和磷脂。这些组分分别是：磷脂酰乙醇胺、磷脂酰胆碱、磷脂酰丝氨酸、鞘磷脂、溶血磷脂酰胆碱、磷脂酸、糖鞘脂、甘油三酯、甘油二酯和一种未知成分。将这些脂肪酸组成与对照值进行了比较。主要偏差是三种中性脂质组分中棕榈油酸（16 : 1ω7）水平降低。在强直性肌营养不良症中，甘油二酯中的棕榈油酸从9.1%降至1.3%，甘油三酯中的从10.6%降至2.6%。在杜兴氏肌营养不良症中，甘油二酯中的该百分比从9.1%降至4.0%。从血浆中分离出了磷脂酰胆碱、溶血磷脂酰胆碱、鞘磷脂和磷脂酰乙醇胺。在强直性肌营养不良症中，溶血磷脂酰胆碱中的肉豆蔻酸（14 : 0）含量升高（从4.4%升至8.6%），鞘磷脂中的也升高（从3.3%升至5.0%）。在后一种磷脂中，硬脂酸水平从18.6%降至12.8%。在强直性肌营养不良症患者血浆中的磷脂酰胆碱中，二十碳三烯酸（20 : 3ω6）水平从3.1%降至2.0%。杜兴氏肌营养不良症患者的血浆组分未显示出偏差。这些结果并未解释在营养不良性红细胞中发现的各种生化异常。它们也未表明脂质代谢主要途径存在缺陷。然而，不能排除未成熟红细胞中脂质从头合成存在异常。
