Protein EpidemiologyUnderstanding Human Diseases at the Level of Protein Structure and Function

The chemical reactions that make up the life of all organisms are controlled, to a large degree, by the structure and function of proteins. The protein products of translation of the roughly 30,000 genes of a complex organism can act either alone or together in various combinations to regulate the... read moremetabolic pathways of an organism. The conformations of the proteins are dictated by their amino acid sequence together with alterations provided by modifications after the completion of the translation process, also known as post-translational alterations, Changes in amino acid sequence are produced by genetic mutations which are now known to be the cause of many metabolic diseases in humans. The aim of this series is to discuss the origin, diagnosis and treatment of these diseases.

Understanding human metabolic diseases at the level of protein structure and function is a major research endeavour globally. Tools are now available to permit scientists to manipulate the genes of a protein in order to introduce specific amino acid changes. This manipulation then allows the detailed study of the alteration in properties of the resulting proteins produced by recombinant methods. The methods used to study these changes in properties include X-ray crystallography, NMR spectroscopy, kinetic analysis of catalytic efficiency and the measurement of binding interactions. A better understanding of protein structure and function is providing information of value in drug discovery for therapeutic purposes.