Purine Metabolism Dysfunctions: Experimental Methods of Detection and Diagnostic Potential

Purines, such as adenine and guanine, perform several important functions in the cell. They are found in nucleic acids; are structural components of some coenzymes, including NADH and coenzyme A; and have a crucial role in the modulation of energy metabolism and signal transduction. Moreover, purines have been shown to play an important role in the physiology of platelets, muscles, and neurotransmission. All cells require a balanced number of purines for growth, proliferation, and survival. Under physiological conditions, enzymes involved in purines metabolism maintain a balanced ratio between their synthesis and degradation in the cell. In humans, the final product of purine catabolism is uric acid, while most other mammals possess the enzyme uricase that converts uric acid to allantoin, which can be easily eliminated with urine. During the last decades, hyperuricemia has been associated with a number of human extra-articular diseases (in particular, the cardiovascular ones) and their clinical severity. In this review, we go through the methods of investigation of purine metabolism dysfunctions, looking at the functionality of xanthine oxidoreductase and the formation of catabolites in urine and saliva. Finally, we discuss how these molecules can be used as markers of oxidative stress.

Automated summary

Purines, such as adenine and guanine, have various important roles in cells, including being found in nucleic acids, serving as structural components of coenzymes, and playing crucial roles in energy metabolism and signal transduction. They also contribute significantly to the physiology of platelets, muscles, and neurotransmission. Maintaining a balanced purine ratio is essential for cell growth, proliferation, and survival. Dysfunctions in purine metabolism, such as hyperuricemia, have been associated with certain human diseases, particularly cardiovascular ones. Investigating purine metabolism dysfunctions, the functionality of xanthine oxidoreductase, and the formation of catabolites in urine and saliva can provide insights and potential markers for oxidative stress.