Biochemical Genetics

Biochemical Genetics

ιατρική ακριβείας

What is Biochemical Genetics?

What exactly do the “omic” sciences  we often hear represent?

In the context of systems biology, the last 20 years have seen a rapid increase in “omic” sciences such as proteomic, genomic, transcriptomic and metabolomic. The aim is to provide a more comprehensive overview of the pathophysiology of living organisms.

The term “omics” refers to any type of specialized study that provides collective information about a biological system. Each ‘omics’ technique is vital to the understanding of various biological systems, thus complementing the information provided by the other clinical and diagnostic scientific approaches.

What do we mean by metabolomics?

Metabolomics is defined as   the study of the quantitative description of all molecules with a molecular weight of 50 – 1600Da present in a biological sample in the unit of time that it is collected and examined.

In particular,  metabolomics  is the systematic study of the chemical fingerprints derived from specific cellular processes and reactions that take place in the cytoplasm. Metabolic profiling is the discrimination of small molecules as a result of biochemical reactions, called metabolites.

It is defined as  Biochemical Genetics  and describes metabolic disorders. These disorders consist of disorders of amino acid, carbohydrate, lipoprotein, purine/pyrimidine and organic acid metabolism.

Metabolism represents the set of all metabolites of a biological organism, which are the final products of its gene expression, protein activity, thus determining the biochemical phenotype of an organism organically. It is worth emphasizing at this point that the total number of metabolites of a cell today is 7,500, already more than double compared to previous researches a few years ago.

Of these, 990 are currently constantly being examined for their clinical significance, while approximately 260 of them we have the necessary data for their significance. Research at all levels continues with undiminished interest, even in the identification of more metabolites.

When do we first encounter metabolomics?

Metabolomics   was introduced to the scientific field in 1970 by Arthur B. Robinson . Robinson, with the question whether biological variability could be explained on the basis of far greater differences in nutritional requirements than had generally been recognized, began his investigations.

By analyzing the chromatographic patterns of the urine of people who had taken vitamin B6, Robinson discovered that hundreds or thousands of chemical components in the urine contained very useful information.

At a clinical level, it has been applied since 2000, and it is found in all Genetics study programs around the world, as  Biochemical Genetics .

Among the most important centers of research and application in the USA are the Cleveland Clinic, the Mayo Clinic, as well as many university hospitals in Europe.

What can metabolomics examine today?

Today, it is possible through metabolomic analysis and specifically through the examination of metabolites, to study the phenotypic outcome of the complex interactions between genotype and lifestyle, diet, environmental effects of gut flora, etc., i.e. to studied the so-called epigenetics.

According to epigenetics, the environment interacts with our genes and their expression. It creates a particular and variable phenotype through the interaction of environment and cells. Epigenetics examines any change in the expression of information that is not due to DNA or some gene mutation.

Epigenetic modifications or even changes in DNA expression that cannot be assessed with knowledge of the DNA sequence may also indirectly affect metabolites. It is now known that a complex biological system is constantly affected and modified in relation to the physiological state and interactions with the external environment creating new metabolic pathways.

What  are the main advantages of metabolomic  analysis?
  • Metabolites are closely related to the phenotypes of living organisms and provide information on biochemical activities by reflecting the substrates and products of cellular metabolism. It is worth pointing out here that metabolism is also known as the molecular phenotype of living organisms.
  • While mRNA gene expression data and proteomic analyzes do not fully explain what might be happening in a cell, the metabolic profile can provide a snapshot of that cell’s physiology.
  • By studying and quantifying the metabolites present in biological fluids, metabolomics offers a direct picture of the system, providing useful information for understanding the processes taking place in the organism being analyzed. Of course under the conditions and epigenetic effects at the time analyzed.

How genetic material polymorphisms (SNP's) affect our lives

Are there studies on metabolomic  analysis?

Metabolic studies have occupied scientists in recent years, for this reason there is a constant increase in scientific publications in this field.
This is due to the fact that metabolomics is important in describing the activity of the cell at a functional level as well as providing the quantitative measurement of metabolites present in the cell and by extension also in the body.

In addition, it is the final step of the biological sequence of events, which ultimately connects genes, proteins and metabolites, which are in essence either precursors and/or catalysts for the functioning of the biological pathways of the function of each cell either in anabolism or in catabolism (both make up what we call metabolism). Catabolism is the synthesis of all cellular reactions for the burning of nutrients to produce energy, while anabolism is all those that any cell needs for its production, resynthesis and reorganization.

What  is the use of metabolomic  analysis (metabolic profiling)?

Metabolic profiling enables the detection of individual diversity and enables the identification of each individual with 100% specificity. Metabolomics also allows the detection of intra-individual variability, which for the same individual may vary according to the physiological, developmental or pathological state of cells, tissues, organs or the whole organism.

Through metabolomic analysis it is possible to provide an explanation for issues such as: why someone is not able to lose weight while watching their diet, or why they feel tired while not having an intense life and at the same time have full meals, or to clarify why someone has the tendency for inflammations or micro-inflammations etc.

By reading the metabolic profile what  information can we extract?

The information that can be extracted in a metabolomic analysis is:

  • Vitamins of the B series
  • Cellular antioxidants and antioxidant mechanisms
  • Trace elements and Coenzymes
  • Gastrointestinal Functionality (Intestinal Microbial Flora)
  • Citric acid cycle (mitochondrial function and cellular energy production)
  • Metabolism of neurotransmitters
  • Metabolism of lipids, proteins and carbohydrates
  • Indicators of oxidative stress
Does metabolomics  negate or challenge traditional existing medical treatments and approaches?

The answer is categorically no. Metabolomic analysis is a specialized and integral part of the biological health sciences that has the potential to lead to a comprehensive view of the metabolic state and biochemical events associated with the individual’s condition. The metabolomics approach can provide a comprehensive picture of both steady-state physiological conditions and the dynamic responses of a given organism to genetic and environmental stimuli. Thus, the metabolomic analysis in combination with the already existing diagnostic methods (either imaging, laboratory, or clinical), comes to provide a comprehensive and deeper treatment of any condition.