Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India.
NMR Biomed. 2010 Jan;23(1):13-22. doi: 10.1002/nbm.1419.
Proton NMR spectroscopic investigations on the lipid extract of the serum of 41 Duchenne muscular dystrophy (DMD) (age, mean +/- SD; 8.0 +/- 3.0 years) patients and 22 healthy subjects (age, mean +/- SD; 9.0 +/- 4.0 years) were performed in the northern Indian population. The concentration of triglycerides, phospholipids, free cholesterol, cholesterol esters and total cholesterol was significantly higher in DMD patients as compared to healthy subjects. Ratio of free-cholesterol to cholesterol-esters was also significantly higher in DMD patients. Among the individual lipids, concentration of phospholipids was found to be consistently higher in DMD patients compared to healthy subjects, with a discriminatory index of 87.5%. The highest discriminatory index of 92% was found along with the ratio of PL (phospholipids) to CHOL (cholesterol), i.e. PL/CHOL. No significant quantitative difference was observed in the serum lipid constituents of positive and negative gene deletion cases of DMD. The inferences drawn from this study may provide the possibility of the diagnostic importance for DMD, especially in cases where genetic analysis fails to provide the diagnosis.
对 41 名杜氏肌营养不良症（DMD）（年龄，均值±SD；8.0±3.0 岁）患者和 22 名健康受试者（年龄，均值±SD；9.0±4.0 岁）血清脂提取物的质子 NMR 光谱研究在印度北部人群中进行。与健康受试者相比，DMD 患者的甘油三酯、磷脂、游离胆固醇、胆固醇酯和总胆固醇浓度显著升高。DMD 患者的游离胆固醇与胆固醇酯的比值也明显更高。在各脂质中，与健康受试者相比，DMD 患者的磷脂浓度始终较高，其鉴别指数为 87.5%。与 PL（磷脂）/CHOL（胆固醇）的比值相比，PL（磷脂）的鉴别指数最高，为 92%。DMD 基因缺失阳性和阴性病例的血清脂质成分无明显差异。本研究的推论可能为 DMD 的诊断提供重要依据，特别是在基因分析无法提供诊断的情况下。
