Metabolomics is a newly developed discipline following genomics and proteomics and is an important component of systems biology. It has rapidly developed and penetrated into various fields such as disease diagnosis, pharmaceutical development, nutrition science, toxicology, environmental science, and botany, all closely related to human health care.
The research methods in metabolomics are similar to those in proteomics and typically involve two methods. One method is called metabolite fingerprint analysis, which uses liquid chromatography-mass spectrometry to compare the metabolites in different blood samples to determine all of the metabolites present. Essentially, metabolite fingerprint analysis involves comparing the mass spectrometry peaks of metabolites in different individuals, ultimately understanding the structures of different compounds and establishing a complete set of analytical methods to identify the characteristics of these different compounds. Another method is metabolite profiling, in which researchers assume a specific metabolic pathway and conduct further in-depth research on it.
Metabolites have more characteristics than just mass spectrometry peaks. Furthermore, mass spectrometry cannot detect all metabolites, not because of the sensitivity of the instrument, but because mass spectrometry can only detect ionized substances, and some metabolites cannot be ionized in the instrument. Nuclear magnetic resonance spectroscopy can compensate for the shortcomings of chromatography.
Compared with genomics and proteomics, metabolomics research focuses on the commonality of specific components and ultimately involves the study of the commonality, characteristics, and regularity of each metabolite component, which is currently far from achieving this goal. Despite the challenges, researchers still believe that metabolomics is more closely related to physiology than genomics and proteomics. Disease leads to changes in the pathological and physiological processes of the body, ultimately causing corresponding changes in metabolites. By analyzing certain metabolites and comparing them with those of normal individuals, researchers can identify biomarkers of diseases, which will provide a better diagnostic method for diseases.
Metabolomics researchers have already studied this area. Whether newborns lack enzyme genes can be detected at birth. Enzymes involved in basic components of synthesis pathways (such as amino acids) can be detected, and the result of enzyme deficiency is too little or too much of the corresponding metabolite. Phenylketonuria is a common infant disease caused by the lack of the phenylalanine hydroxylase gene necessary to hydrolyze phenylalanine into tyrosine, resulting in the accumulation of phenylalanine in the blood. If this congenital metabolic deficiency cannot be detected in time, irreversible brain damage will occur within nine months of birth. This disease can be diagnosed through a simple blood and urea test, which will also become part of metabolite fingerprint research methods in the future. Diseases like phenylketonuria can be diagnosed early, and researchers can use metabolomics to develop personalized treatment plans.
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