High resolution NMR based analysis of serum lipids in Duchenne muscular dystrophy patients and its possible diagnostic significance

Abstract

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.

A new therapeutic effect of simvastatin revealed by functional improvement in muscular dystrophy

“…Nevertheless, to determine whether the beneficial effects of simvastatin on TA muscle function were associated with reduced circulating cholesterol levels, we measured the plasma LDL and very-low-density lipoprotein (VLDL) as well as HDL cholesterol concentrations. Interestingly, mdx Con mice had significantly higher LDL/VLDL levels than WT mice, in accordance with elevated serum cholesterol levels in DMD individuals (38). However, simvastatin did not lower LDL/VLDL in mdx or WT mice (Fig.…”

Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders

“…BIO 14.6 animals also exhibited an increase in cholesterol-to-phospholipid ratio in cardiac tissue similar to that observed in UM-X7.1 animals ( 128 ). This increase in cholesterol-to-phospholipid ratio seems to be a common feature of DMD lesions ( 105,129,130 ). It has been proposed that the decrease in phospholipids may be due to the release of phospholipids during the degeneration of muscle as well as the increased activity of phospholipase A in DMD tissue.…”

“…It has been proposed that the decrease in phospholipids may be due to the release of phospholipids during the degeneration of muscle as well as the increased activity of phospholipase A in DMD tissue. During muscle regeneration, increased cholesterol synthesis is required, which may be responsible for the elevated cholesterol levels in DMD patients ( 130 ).…”

Metabolic profile of dystrophic mdx mouse muscles analyzed with in vitro magnetic resonance spectroscopy (MRS)

“…When applied to the study of DMD, 1 H magnetic resonance spectroscopy (MRS) has been shown to be an efficient method to identify metabolic changes in muscle and serum, allowing a better understanding of some biochemical processes induced by the disease [17][18][19][20][21][22][23]. In this paper, 1 H high-resolution MRS analysis was used to study two muscles with a different pattern of degeneration in the adult mdx mouse: the diaphragm and the femoral quadriceps.…”