Genetics and human health

The genetic foundations of health

Every cell of the human body has more than 50 trillion of them! – contains unique genetic information. Figuratively speaking, a program is encrypted in DNA that determines all the signs and functions of the human body, from the color of the iris to an individual reaction to stress. 

Children receive a genetic program from their parents – this phenomenon is called “heredity.” Therefore, if there were any polymorphisms (changes) in the parents’ genes, they would likely pass to the child. In addition, the activity of genes can also change in the process of ontogeny (the process of individual human development). This makes members of the same family both similar and completely different and makes all people, without exception, unique.

Since genes directly control various body functions, the predisposition to certain diseases, the development of a deficiency of certain vitamins, excessive sensitivity to toxins, and other factors that are harmful to human health depend on their state.

Genetic diseases

Experts estimate that each person is a carrier of about 2,000 genetic defects that can affect their health and, in some cases, contribute to developing serious diseases. Genetic changes can be caused by several factors (also called mutagens). In some cases, these mutations can be beneficial to us. But still, the vast majority are either neutral or harm our health.

These include diseases caused by mutations at the genetic level, which are transmitted from parents to offspring. According to statistics, about 4% of children are born with certain hereditary diseases. Among them are:

• chorea of ​​Huntington;
• muscular dystrophy; 
• achondroplasia (dwarfism);
• hydrocephalus; 
• phenylketonuria;
• Down syndrome;
• diabetes mellitus type I;
• sickle cell anemia;
• endocrine disorders;
• mental disorders.

Genetic health factors

The inheritance program that parents pass on to their children can:

• Worsen health – in the presence of hereditary diseases and disorders, as well as with a hereditary predisposition to diseases;
• Promote health – with healthy heredity and the absence of prerequisites for the onset of the disease. 

But here’s what’s important! Even if you know that from generation to generation in your family, there are cases of, for example, hypertension, this does not mean that it will manifest itself in you. Heredity and genetic health are just one of the factors; sometimes, lifestyle is just as important.

Conditionally hereditary diseases can be divided into four groups:

• Diseases caused by one altered gene – phenylketonuria, hemophilia, etc. The role of the environment in their manifestation is the most insignificant; it only affects the various manifestations of the disease;
• Diseases are also caused by a gene mutation but do not manifest themselves without specific environmental influences – for example, gout. It is important to note that as soon as the exposure to the environment ceases, the manifestations of the disease usually become less pronounced;
• The vast majority of common diseases, especially diseases of mature and old age (hypertension, gastric ulcer, most malignant tumors, etc.). The main thing that causes them to happen in their environment, but how much this happens depends on their genes. Therefore, such diseases are called multifactorial;
• Pathologies in the occurrence of which the environmental factor plays an exceptional role. Usually, this is the result of an extreme impact on the body, from which there can be no protection (injuries, especially dangerous infections). Genetic factors, in this case, affect the course of the disease: the rate of recovery, the intensity of the inflammatory response to infection, the presence or absence of adverse reactions, etc.

And although there is no doubt about the significant role played by hereditary factors, statistics show that the leading positions are occupied by diseases associated with the lifestyle and health of future parents and mothers during pregnancy. 

For example, a girl is born into the world with a certain set of eggs, which, as they mature, are sequentially prepared for fertilization. In the end, everything that happens to a girl, a girl, or a woman before she gets pregnant changes her chromosomes and genes. The average life span of a spermatozoon is much shorter than an egg’s, but it is still long enough for changes in its genetic machinery. Thus, it becomes clear the responsibility that future parents bear to their offspring throughout their entire life before conception.

Frequently, elements beyond their control, such as bad environmental conditions, complex socio-economic processes, uncontrolled use of medicinal preparations, etc., also have an impact. The result is mutations that lead to hereditary diseases or the appearance of a hereditary predisposition to them.

 Therefore, most often, a change in a person’s eating and behavioral habits can make his life and the life of his future children healthy and durable. And on the contrary, inattention to risk factors leads to vulnerability and defenselessness before the action of adverse conditions and life circumstances.

How to prevent the development of hereditary diseases

We have already said that the development of diseases of just one group (diseases caused by one altered gene) practically does not depend on human behavior or environmental factors. In all other cases, genetic characteristics are not the only condition for the onset of the disease but increase the likelihood of its development. 

The DNA test is a breakthrough in preventive medicine that helps to reduce the effect of genetics and keep the disease from going from “possible” to “actual.” This is done to keep the disease from going from “possible” to “actual.” It allows you to explore your genes and determine individual health risks. In most cases, using this knowledge as a powerful tool for prevention and action, you can completely prevent the likelihood of developing a particular disease. 

This primarily concerns diseases called “polygenic with a threshold effect.” These include, for example, most oncological pathologies, type II diabetes mellitus, and coronary heart disease. Yes, these diseases are inherited, but it is not for nothing that they are called “threshold” – they will manifest themselves only if the body reaches a certain limit of its capabilities. A positive test for predisposition to breast cancer does not mean this will happen. This result is a recommendation to treat yourself more carefully, avoid risk factors and not neglect regular examinations by a mammologist.

What else can a DNA test tell?

In addition to dietary and lifestyle advice, a genetic profile can provide you with answers to highly specialized queries.

For example, the results of a genetic study can be used when choosing a sport for yourself or a child. With a genetically pronounced ability of the body to withstand serious physical exertion, one can go into sports of high achievements, engage in power sports, and play sports.

A natural question arises – do other talents, for example, creativity, manifest themselves at the level of genes? Here science does not yet give an exact answer. According to some studies, genes can partially predict whether a child will have absolute pitch, but so far, these data lie only in the field of assumptions.

Finally, genetics and health are closely related, but at the same time, genes are not a sentence but only recommendations and instructions for action. The DNA code means the “rules of the game,” for violation of which the body will write us a “fine,” and if observed, it will give a valuable prize – a long and happy life! The choice is ours, and medicine and genetics are always ready to help.