Genotoxic Substances

Genotoxic substances (mutagenic) are substances that, after inhalation, ingestion or skin penetration, can cause or increase the frequency of genetic damage. Mutagenic substances cause a change in the genetic code of cells. A mutation is a permanent change in the amount or structure of genetic material in an organism, which results in a change in the characteristics of the organism. Changes can involve a single gene, a block of genes, or an entire chromosome.

Occurrence of genotoxic substances
These are substances that are contained all around us - in the air, soil, water, food and in our home environment. In addition, the mutagenic effect was proven for a number of drugs - antibiotics, cytostatics and disinfectants. They can occur naturally, but are more often the products of human activity. Can be detected in food:


 * naturally genotoxic substances: flavonoids (quarcetin, rutin) and tannins (their contribution to damage is minimal);
 * mycotoxins: (aflatoxin B1 – produced by the fungus Aspergillus flavus, pauline, ochratoxin): products of fungi arising from improper storage of food (cereals, nuts, beans);
 * substances of artificial origin:
 * nitrates, nitrites and nitrosamines – in meat, cold meats and cheeses; pyrolyzates of amino acids are created by inappropriate heat treatment of meat;
 * polycyclic aromatic hydrocarbons, polyhalogen hydrocarbons (PCB/TCDD/F), pesticides – DDT, HCH (these substances accumulate in fat tissue);
 * metals with a genotoxic effect – arsenic, hexavalent chromium, nickel, cadmium, lead.

The following can be detected in water:


 * products for disinfection of drinking water by chlorination (chloroform, dichlorophenols, dichlorobenzene);
 * styrene and formaldehyde.

We find a number of substances in the air that are tied to local activity:


 * metals and their compounds (arsenic, chromium, nickel, lead, cadmium);
 * organic compounds (benzene, formaldehyde).

In the domestic environment, substances are released from building elements, furniture and textiles:


 * formaldehyde, styrene, acrylates, phthalates, vinyl chloride.

Types of mutations and their health significance

 * Gene (point) mutations – arise by changing the sequence of nucleotides in the DNA molecule. They affect individual genes, are transmitted to subsequent generations of cells and offspring, and represent a serious burden on the gene pool of the population. Gene mutations are not detectable under an optical microscope.
 * congenital metabolic disorders (phenylketonuria, galactosemia)
 * chondrodystrophy, hemophilia
 * Chromosome (chromosome aberrations) – are changes in the structure of chromosomes. The condition is a chromosome break followed by a faulty connection or the loss of a part of the chromosome. They are usually not passed on to the next generation. They pose a serious risk to the affected individual. They are detectable in an optical microscope.
 * oncogene activation at the break point
 * degenerative disease (atherosclerosis)
 * accelerated aging of cells and tissues
 * Genomic (aberration of the number of chromosomes) – this is a change in whole multiples of the haploid number of chromosomes (triploidy, tetraploidy, polyploidy). They are detectable in an optical microscope.
 * Down syndrome, Turner syndrome, Klinefelter syndrome

Primary prevention of late effects of chemical substances

 * 1) genotoxic activity testing – new genotoxic substances are prevented from entering the environment
 * 2) environmental monitoring - detection of genotoxic substances in the environment (chemical methods, Ames test)
 * 3) exposure monitoring – detection of genotoxic substances and their metabolites in the human body
 * 4) monitoring of the biological effect - monitoring the reaction of the organism to the action of genotoxically active substances (genetic toxicology, immunological, biochemical methods)
 * 5) monitoring the occurrence of genetically determined defects

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 * Toxicogenetics