Themes > Science > Life Sciences > Generalities > Human Genome Project > Proteomics in medicine and biotechnology


The research program of the center organized on the basis of the V.N.Orekhovich
Institute of Biomedical Chemistry, RAMS


Owing to concerted effort by numerous state and commercial structures, the human genome has completely been sequenced in 2000. All 24 human chromosomes are mapped, the defects of hundreds of genes responsible for the development of hereditary diseases have been revealed. A new medical concept has been advanced whereby all diseases can be divided into two major groups: (a) hereditary diseases - a consequence of transmission of defective genes from parents to their children and (b) nonheritable or so called socially-significant diseases, which make up more than 95% of all human diseases and result from disturbances in normal genes' expression regulation. Thus, all human diseases, this way or another, are associated with the genome; the only difference is that the diseases of the former group are due to a defect(s) in gene's structure while those of the latter group are caused by disturbances in gene expression's regulation. The cataloguing of human genes is an achievement which can hardly be overestimated: for many years to come this catalogization will serve as a basis for the development of basic biochemistry, molecular biology and genome-associated applied sciences. The future of this area of research called "genomics" is even more brilliant. Currently the emphasis has swung from sequencing the human genome to sequencing the genomes of animals and microorganisms, particularly pathogenic, and plant genomes. These researches promise enormous achievements in medicine, especially in the struggle against infectious diseases and in agriculture.
While discussing the subject of genomics, we are approaching another topic, namely, what is the postgenomic era?
How the informational structure (gene) is connected with the actually working molecular machine (protein) ? To answer this question, it has to be taken into account that in those few works, where the map of mRNA was compared with the proteinous map within the same cellular system, no strict correlation between the two maps was revealed.
Thus, the informational knowledge cannot be directly converted into the knowledge of actually operating protein molecules. As a result, a new area of research has appeared which is called "proteomics" and which deals with inventory of proteins. At first glance this is an utterly impossible task. While the human genome map is the same for all human cells (24 chromosomes), in the proteomic map each cell is individual. Although the cell may have only 30 - 70 thousands of functional genes, the numerous modification reactions may increase the number of proteins in it up to several millions. There are two definitions for proteomics: a narrow one (the so-called structural proteomics) and a broader one, encompassing both the structural and functional proteomics.
In a narrow sense of the word, "proteomics" is a science dealing with cataloguing of proteins based on a combination of several methods: 2D-electrophoresis, mass-spectrometric analysis of molecular mass, sequencing of electrophoretically-divided proteinous bilogical material with subsequent analysis of the results obtained by use of bioinformatical methods.
In a broader sense, the terms "proteome analysis" or ""proteomics" can be used not only for cataloguing proteins of a biological subject but also for the monitoring of reversible post-translational modification of proteins by specific enzymes, i.e. phosphorylation, glycosylation, acylation, phrenylation, sulfurization, etc.
To date, more than 300 different types of post-translational modification have been characterized with the aid of proteomics. Another aspect of functional proteomics is the clarification of a composition of functionally active complexes forming different metabolic chains and, also, determination of interactions between various proteins or subunits of oligomeric complexes by a combination of methods for isolation of these complexes with subsequent mass-spectrometric analysis. Lately, structural proteomics is often called expressional proteomics while functional proteomics is also designated as cell-mapping proteomics, since it elucidates the interactions of proteins within metabolic pathways.
In our country on the basis of the V.N.Orekhovich Research Institute of Biomedical Chemistry (IBMCh) of RAMS a center for proteomic researches, the first in Russia, is being organized. The scientific program of the center comprises two major directions which will be developed in the proteomic department of IBMC in cooperation with other institutes.
The first direction involves basic researches in the field of proteomics; they will be aimed at creation of proteomic maps of proteins for various biological membranes. Up to now, the problem of effective analysis of membrane proteins by use of 2D-electrophoresis and mass-spectrometry remains unsolved. All major achievements in proteomics are related to the analysis of water-soluble proteins. Separation of membrane proteins and their analysis is a much more difficult task. Given that the membrane proteins constitute up to 30% of all proteins in the genome and that they are highly significant for signal systems, transport processes and oxidative reactions, the necessity of solution of this problem is beyond doubt. As membrane proteins, will be studied the proteins of erythrocyte membranes, of microsomal membranes, of mycoplasm membrane, and those of microbial and plant cells. Until now, there were serious methodological limitations for fractionation by 2D electrophoresis of hydrophobic proteins, which are known to require detergents for their solubilization. At the same time, the first reports have appeared in the literature about successful application of (alternative to 2D) multi-dimensional chromatographic techniques, enabling successfull separation of membrane proteins.
The research program of the proteomic center presupposes the application of various technologies for membrane proteins' fractionation to construct proteomic membrane maps. The first step in the implementation of this program will comprise (a) fractionation of membrane proteins A.Laidlawii by use of the non-ionic detergent, triton X-114, with subsequent two-dimensional separation of fractions by 2D electrophoresis and (b) mass-spectrometric analysis of erythrocyte membrane proteins (the problem of 2D electrophoresis of these proteins has so far been successfully resolved). Simultaneously, the studies will be carried out on construction of proteomic maps of lymphocytes and of the liver cell microsomal fraction. The main object of study upon construction of their proteomes will be the cytochromes P-450 isoforms. Study of the regularities of expression of these monooxygenases under the influence on laboratory animals (mico) of pharmacologically active substances and toxic compounds will provide a better understanding of the mechanism of complex response of cytochrome genes to xenobiotics application. The analysis of the proteomic maps of human lymphocytes will enable to use in pharmacoproteomic studies the data on cytochrome P450 isoforms' content in these latter cells.
The combination of up-to-date biosensoric and mass-spectrometric technologies by the "fishing" approach will make it possible to elucidate the contact sites of interacting molecules in the process of their functioning. It will yield new data on the mechanism of protein molecules' interaction, and thus will make a valuable contribution to the solution of the protein-protein recognition problem - one of the basic problems of modern biochemistry and molecular biology.
Based on the analysis of proteomes of normal and pathologically altered cells, as well as on the studies of drug-sensitive and drug-resistant microbial cells, the distinctions in their composition will be revealed. On the basis of these distinctions, new protein targets will be proposed for which, with the aid of computer modelling, appropriate ligands with high affinity to these targets will be found, which could later be used for subsequent synthesis of new pharmaceuticals.
One essential requirement for the rational engineering of pharmaceuticals and diagnosticums, for the elaboration of biotechnological processes, i.e. for addressing the problems outlined in points 1 - 4 of the present project, is the knowledge of spatial structure of proteins playing a crucial role in the given disease state or the given biotechnological process. The most effective method (now in use) for determination of spatial structure of proteins in near-normal physiological conditions is the nuclear magnetic resonance spectroscopy (NMR).
The interactions of target proteins with ligands as well as protein-protein interactions will also be investigated - by use of high resolution NMR.
Modern NMR methods in powerful magnetic fields open up unique opportunities for determination of spatial protein structures in solutions, for establishing structures of enzymes' active centers, elucidating the mechanisms of their binding to substrates and inhibitors, calculating the stability constants for complexes formed therewith and investigating the dynamics of both the individual proteins and the supermolecular assemblies emerging upon protein-protein interactions in solutions. In the studies to be conducted, the methods of two- and three- dimensional NMR spectroscopy will be employed in combination with relaxation measurements and dynamic NMR methods in a wide range of temperatures and concentrations and at various pH values. The quantitative information about the thermodynamics of protein-ligand and protein-protein interactions, incuding the competitive binding data, will be compared with the results of computer modelling and thus form the basis for selection and modification of potential pharmaceuticals. In the course of this work, new computer programs will be created for treatment of dynamic NMR spectra and for investigation of the kinetics of complex chemical equilibriums, including several successively-parallel routes. In carrying out NMR experiments, a wide application of recombinant labeled ligands is planned.
A characteristic feature of researches to be carried out in the Center will be, from the very outset, their commercialization. Proteomics will be used for creation of new diagnostic methods. Now, this trend has got top priority the world over.

1. Medical proteomics-based diagnostics.

Applied researches in medical diagnostics will be developed in several directions: (a) Construction of proteomic maps of serum and amniotic fluid for the purpose of complex determination of foetus pathology markers. Special attention will be given to elucidation of etiological mechanisms of fertility, to pathogenesis of chronic miscarriage and elaboration of algorithms for the complex therapy of these states based on dynamics of specific markers' alterations. The first step presupposes elaboration of assays for determination of AMGF (glycodelin), alpha-fetoprotein, g-XGH, lipokalins, SA-125, the (insulin-like growth factor-1)-binding protein (IGF BP1), trophoblastic g-globulin, placental lactogen, pregnancy-associated alpha-2-microglobulin, relaxin. The second step involves elaboration of methods for identification of new miscarriage markers, such as HLA-G antigen, tissue- and organ-specific autoantibodies and so forth. Special studies presuppose elucidation of specific features of posttranslational modification of basic markers for pathological processes, leading to hormonal background alterations, as well as determination of pharmacogenetic approaches to correction of these indices;
(b) Diagnostics of tumors. Special attention will be given to detection of markers for the so-called "silent tumors" of bone tissue, ovaries and others. In particular, the determination of protooncogen-encoded proteins, such as myc, scr, fos, jun, myb, fmc, raf-1, will be carried out. Also to be studied are the possibilities of complex determination of integrins, endothelial kadkherin, vinkulin, E-selectin and some other protooncogens. The proteomic maps of tumor tissues will be constructed for diagnostic purposes, and the results obtained are supposed to be used for early diagnosis and for treatment optimization;
(c) Diagnostics of hepatitis. Particular attention will be given to the elaboration of methods for the diagnostics of hepatitis, in whose pathogenesis the autoimmune reactions play the leading role. Lack of domestic sets of reagents for definition of autoimmune hepatitis markers makes this part of the research very timely for application of proteomic technologies to practical health care. Also, the attempts will be made to reveal the proteins of B and C hepatitis viruses in the serum of patients with hepatites - both for the diagnosis of these diseases and for the control of treatment efficacy.

2. Proteomics of industrial microorganisms

Bacteria are living organisms of the most elementary structure, capable of independent existence in the environment. It may be stated with certainty that bacteria provide a perfect model for basic researches in the post-genomic era because (a) their structure is very simple; (b) their genome has been fully decoded (more than 40 bacterial species by the end of 2000); (c) there is a wealth of data on their genetics, biochemistry, molecular biology, and structural organization; and, lastly (d) these organisms offer an ability to monitor their growth under strictly controlled conditions.
1. With regard to the practically oriented basic researches, it would be worth-while to dwell, within the framework of this program, on the two most studied bacterial species - E.coli and B.subtilis. These species of bacteria are widely used in industrial production: B.subtilis is used for obtaining of enzymes, nucleotides, vitamins; E.coli, for production of human proteins (insulin, interferon and many others) and for production of amino acids, carotinoids and others.
From a practical viewpoint, microbiological industry requires the optimization of three parameters: 1) high speed of growth; 2) high yield of crude target product; 3) safety of strain for the man and the environment.
Based on genomics and bioinformatics, the proteomics, especially in combination with transcriptomics and isotope methods of measurement of metabolic flows, may form a scientific basis for solution of above mentioned practical problems, thereby bringing us nearer to the main aim of biology - quantitative and adequate description of living organism behavior at the molecular level.
For the program performance it is planned to resolve the following problems:
1. To determine a set of E.coli genes, which are never expressed in laboratory conditions. To delete several genes of these species and to show that such deletions have no effect on technological characteristics of strains. Towards the end of this term or in subsequent years to delete 10 to 15% of the E.coli genome. These mini-bacteria must grow better, spend lesser amounts of substrate for biomass synthesis but not survive in the environment.
2. To study the E.coli proteome in the phase of culture transition from the logarithmic phase of growth to the stationary phase. To characterize the expression of gene groups involved in central metabolism. To detect the groups of genes regulated by common regulation systems. Using the data base, to obtain indications to target genes, whose changes may prolong the productive stage of biosynthesis (without cell division).


3.Construction of proteomes of tubercular pathogens and creation on their basis of new preparations to overcome multiple resistance of mycobacteria to medicinal preparations


At present, the spreading of tuberculosis in Russia has acquired menacing proportions. High incidence rate of tuberculosis is connected with the lowered efficiency of traditional anti-tuberculous medicines and spreading of multi-resistant pathogenic strains of M.tuberculosis. Present-day tuberculosis is characterized by a severe disease course with quick formation of cavities and caseous decay. According to the data of the Research Institute of Phythisiopulmonology of the I.M. Sechenov Moscow Medical Academy, primary drug resistance is observed, on average, in 35% patients.
One of the cardinal ways to overcome drug resistance of mycobacteria consists in application of intensively developing proteomic analysis.
This approach is optimal with respect to: identification of genes, determination of appropriate macromolecular components of bacterial cells responsible for resistance, revelation of new genes and virulency factors, performance of exhaustive comparative analysis of resistant strains and creation, on their basis, of data bases providing the estimation and prediction of resistance to antituberculous medicines.
At present, the DNA sequence (consisting of 3924 genes) of the M. tuberculosis H37Rv genome is completely decoded. Fractionation and partial functional identification of 1800 proteins of virulent strains have been performed. At the same time, it is necessary to admit that the currently available data on genes and mycobacteria's virulency factors remain scarce and fragmentary. One very important goal of proteomic analysis is the study of those genes, encoding the virulency factors; the aim is to allow the mycobacteria to neutralize, parially or fully, the influence of mechanisms underlying the non-specific resistance and/or immunity.

4.Proteomic analysis of trangenic plants expressing epitopes of antigenes to viruses of human hepatitis B, C and E

Of great importance for the genetics, molecular biology and biotechnology of plants are the researches on genomics of a model flowering plant, arabidopsis. Knowledge of arabidopsis' genes will provide a better insight into the basic processes of reproduction and realization of genetic information in high plants and, in particular, will lead to creation of a new generation of agricultural products and plants for medical use. At present, the development of these researches is impossible without detailed investigation of plant cell proteins constituting its proteome. Modern high-precision methods of mapping, visualization of proteins and study of protein-protein interactions allow the identification of minor qualitative and quantitative changes in cell proteomes, arising under various outer influences and in physiological processes. Special importance these researches have acquired after the creation of transgenic agricultural products - for which they serve as an important certification criterion. Among the most topical researches are those employing plants for creation of new vaccines against viruses of hepatites B, C and E. The preparations obtained may be used as "eatable" vaccines and this will make their production and application significantly cheaper. Such researches are currently being conducted on tobacco and arabidopsis, but in future the elaborated techniques will be extended to such cultures as cabbage, rape, tomatoes. Since these plants are closely related to arabidopsis, one can assume that the proteomic analysis of the model plant systems under study will enable to effectively use the obtained results for closely related technical cultures as well.


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