Functional enzymology - Enzymes involved in human deseases; Enzymatome concept

After having presented the "normal" functioning of various enzymes in different living organisms or in acellular cells in the three previous articles [PHA 1 510] , [PHA 1 512] and [PHA 1 514] , this article aims to establish the consequences induced by enzyme deficiencies, overexpressions or mutations in the human species.

Various human pathologies are linked to enzyme dysfunction. In some cases, enzyme mutations or enzymes with abnormal expression levels induce genetic pathologies in humans. In other cases, mutations affect the genetic make-up of potentially infectious viral or bacterial agents. In such cases, they can lead to therapeutic loopholes due to the ineffectiveness of drugs targeting the enzymes concerned.

First, the main genetic changes occurring in viruses and bacteria are reviewed. The main part of the article details the occurrence of enzymatic pathologies in the human species. These diseases have been classified as metabolic, structural, informational and cancerous. The final section is devoted to the vital enzymes of a virus, enabling us to demonstrate the concept of the enzymatome.

Finally, as a complement to previous reviews, this article looks at the new therapeutic perspectives offered by the field of enzymology. The aim will differ according to whether the pathology results from the dysfunction or absence of one or more enzymes in humans, or from pathologies related to the enzymes of infectious agents. In all cases, it is important to identify the enzyme(s) responsible for the pathology in question, and to develop the best treatment(s).

A glossary and table of acronyms are provided at the end of the article.