What genetics studies, what is DNA and when was it discovered?

The fundamental discovery that started the modern study of genetics is the discovery of DNA and its structure. The structure of DNA was discovered in 1953, thanks to the studies of Rosalind Franklin, who was the first to imagine its helical structure. The images obtained were then used by Watson and Crick to demonstrate their theory (1958), for which they won the Nobel Prize in 1962.

What is DNA, the genetic code?

Every cell of every living being contains DNA, a very complex structure consisting mainly of a double strand, coiled around itself to form a double helix. DNA contains the genetic code, made up of an alphabet of only 4 letters (ATGC), which by aligning themselves in a different sequence of 3 consecutive letters, i.e. triplets, called "codons", allow the production of the 20 amino acids fundamentals (e.g. Arginine, Lysine, Glycine, Alanine, etc). These amino acids, in turn, by binding together, produce all the proteins necessary for the functioning of our body.

A "gene” is made up of a variable number of codons, which code for the amino acids, which are used to produce the individual different proteins such as, for example, the “Myosin", "Troponin T o I"Or the"Myosin-binding protein C”, proteins essential for the contraction of heart cells, or the “Desmoplachin” for the adhesion of cells to each other or the “Titin".
In 2003 the genetic code of man was analyzed and over 25.000 genes.

Where is DNA?

DNA is delicate and its integrity must be preserved. It is enclosed within the cell nucleus, where it replicates at each cell division in order to possibly keep the genetic information of that organism or individual intact. Unable to leave the nucleus, DNA needs an intermediary, called RNA, which copies the information encoded in the genes and transports it to the area of ​​the cell around the nucleus called "cytoplasm”, where proteins are assembled and main activities of the cell itself take place.

Messenger RNA, a molecule similar to DNA, but with only one strand, copies the code from the corresponding DNA, and acts as a template for each specific codon. Each codon produces its own amino acid, and the sequence of amino acids forms a protein of precise length and spatial conformation to ensure the function it will have to perform.

The genetic code

What happens if the code is altered, or is incorrectly transcribed?

Several errors may occur, said "mutations" or "variants", which produce a protein, for example, missing some parts, such as a book that is missing a few pages. A malfunctioning protein can be responsible for diseases, and therefore also Cardiomyopathies, which can be recognized at birth, more often in adulthood. If the "mutations" are transmitted to children, these diseases are defined "hereditary”, as in most cases, for example, of CardiomyopathiesHowever, mutations can also play a positive role. For example, they contribute to the diversity of individuals, such as offspring, or within a population, thus ensuring the variability of the species and its continuous adaptation to a changing environment.