Amyotrophic Lateral Sclerosis (ALS) is a degenerative motor neuron disease characterized by progressive dropout of motor neurons in the brain, brain stem, and spinal cord. This disease may produce characteristic perturbations of the metabolome, the collection of small-molecules (metabolites). To test this hypothesis, we have investigated metabolite profi le in the blood serum of 30 patients with ALS and 25 healthy controls by using 1H NMR. Patients with ALS had signifi cantly higher median concentrations (microM) of creatine/creatinine (43 vs. 30, P<0.02), glutamate (92 vs. ND, P<0.001), β-hydroxybutyrate (2 vs. ND, P<0.001), acetate (15 vs. 8, P<0.01), acetone (15 vs. 9, P<0.05), and formate (16 vs. ND, P<0.001) than healthy controls, and signifi cantly lower concentrations of N-acetyl derivatives (P<0.001), glutamine (406 vs. 448, P<0.02), histidine (55 vs. 67, P<0.001), however, the concentration of alanine, lysine, pyruvate, citrate, glucose, and tyrosine were comparable. Concentration of glutamate, N-acetyl derivatives and histidine correlated with the duration of the disease. These results suggest that metabolomic studies can be used to ascertain metabolic signatures of disease in a single step. Such 1H NMR study of serum provides an insight into aberrant biochemical pathways which may have the potential to serve as a surrogate marker for monitoring ALS disease progression and also could be targets for drug design.
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