Metabolic status of patients with muscular dystrophy in early phase of the disease: In vitro, high resolution NMR spectroscopy based metabolomics analysis of serum.

Aims: Proton Nuclear Magnetic Resonance (NMR) based metabolomics analysis is extensively used to explore the metabolic profiling of biofluids. This approach was used for the analysis of metabolites in serum of patients with major types of muscular dystrophy in early phase of the disease.

Material And Methods: Proton NMR spectroscopy based qualitative (assignment of metabolites) and quantitative (quantification of metabolites) analysis of metabolites in native serum of patients with Duchenne muscular dystrophy (DMD) [n=88; n represent the number], Becker muscular dystrophy (BMD) [n=40], facioscapulohumeral dystrophy (FSHD) [n=22], limb girdle muscular dystrophy (LGMD)-2B [n=35] and myotonic dystrophy (DM) [n=21] as compared to normal subjects [n=50] were performed.

Key Findings: Quantity of branched chain amino acids was elevated in serum of patients with DMD, BMD, FSHD and DM-1 as compared to normal subjects. Acetate level was elevated in serum of patients with DMD, BMD, FSHD, LGMD-2B and DM-1 as compared to normal subjects. Level of glutamine was reduced in serum of patients with DMD, BMD, LGMD-2B, FSHD and elevated in DM-1 patients as compared to normal subjects. Quantity of tyrosine was increased in serum of BMD patients as compared to normal subjects. There was a reduction in the level of lysine in serum of FSHD, LGMD-2B and DM-1 patients as compared to normal subjects. Citrate level was reduced in serum of FSHD patients, but elevated in LGMD-2B patients. Lactate level was reduced in serum of LGMD-2B patients and histidine was reduced in serum of patients with FSHD as compared to normal subjects.

Significance: Outcome of this study may be useful as supportive information for the existing diagnostic methods of the muscular dystrophy.