Niraj Kumar Srivastava1, Sanjay Annarao2, Neeraj Sinha2. 1. Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Raebareli Road, Lucknow 226014, India. Electronic address: nirajsuprabhat@gmail.com. 2. Center of Biomedical Research, SGPGIMS Campus, Raebareli Road, Lucknow 226014, India.
Abstract
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.
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-1patients as compared to normal subjects. Quantity of tyrosine was increased in serum of BMDpatients as compared to normal subjects. There was a reduction in the level of lysine in serum of FSHD, LGMD-2B and DM-1patients as compared to normal subjects. Citrate level was reduced in serum of FSHDpatients, but elevated in LGMD-2Bpatients. Lactate level was reduced in serum of LGMD-2Bpatients 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.