Changes in the human genome, that is, the totality of all genes, can manifest themselves in beneficial symptoms, but usually in adverse symptoms. The purpose here is to elucidate how gene mutations occur, how they are diagnosed, what type of symptoms they can cause, and how medicine treats and treats them. It is not possible to make a general statement because of the wide range of possibilities of gene mutation.
What is gene mutation?
A gene is a part of DNA that is responsible for exactly one characteristic. For example, the part of DNA that determines body size or the one that codes for eye color is a gene. DNA is understood to be those base-containing threads in the cell nucleus that carry all the information about the structure of a living being. The totality of all genes of a living being is called genome. The term gene mutation is now a compound of the word gene and the word mutation, which comes from the Latin “mutare” for “to change”. By definition, it is a change – usually occurring abruptly – in the genetic material.
Causes
First and foremost, it should be noted that no one can contribute anything to or against a gene mutation. Usually this happens randomly and erratically. It is interesting to think that without gene mutations, evolution would not have occurred in the world. Gene mutations led to the fact that certain living beings were better adapted to the environmental conditions than others and could therefore assert themselves better, i.e. reproduce. Gene mutations that do not cause any symptoms are usually not noticeable, the carrier does not notice them or perhaps even has advantages through them that he is not aware of. However, some medical and biological research suggests that certain substances in the environment (toxins such as nicotine, acids) tend to be triggers for gene mutations. During meiosis, the division of germ cells (provision of fertilizable sperm and eggs), an older age plays a role for mutations, of which the child-to-be is then the carrier. Furthermore, X-rays and radioactive radiation are possible triggers of mutations, as are heat and cold shocks.
Symptoms, complaints and signs
If it is a mutation in a body cell, all body cells arising from it by division are affected by the mutation. This can have some negative effects, but it does not have to. It always depends on how much tissue of the body is affected by the mutation. However, if it is a mutation of the germ cells as described above, every single cell of the body is affected by the mutation. It is important to understand that every single one of the billions of cells contains the same identical information. In order to alter or correct a genetic defect of any kind, it would be necessary to interfere with each of these vast numbers of cells, which is impossible for reasons that are naturally understandable. Symptoms range from the most severe physical or/and mental disabilities to moderate impairment to complete freedom from symptoms, depending on the gene on which the mutation occurred. It is obvious that a mutation on the gene for eye color will not cause any symptoms, but one that affects the function of the insulin-producing islet cells of the pancreas will. Therefore, a statement about a general symptomatology is not possible here.
Diagnosis
If a mutation is suspected, cells of the expectant child can be examined for completeness or alteration of the genome already in the womb by amniocentesis and other methods that are generally risk-free for the child. In children or adults, the DNA is usually analyzed by a cell of the oral mucosa. The DNA of a human being forms 23 pairs of chromosomes, which differ from each other in shape and pattern. Through complicated laboratory analysis, abnormalities are detected. Many common mutations are known to medicine; however, new ones with new patterns of symptoms continue to emerge. Once a diagnosis is made, the course of the disease, if one develops, is monitored.
Complications
Because a gene mutation occurs in the genetic material and thus has a serious impact on the development, growth, and metabolism of the individual, complications can be severe. Thus, a gene mutation can lead to the silencing or erroneous activation of entire gene segments.Overproduction and underproduction of enzymes and proteins are usually the result, which in the worst case leads to malformations. If these malformations are severe, but the person is still viable, organ damage and impaired mental development can usually be detected. In mild cases of a gene mutation that only inhibits small areas of metabolism, food intolerances or severe allergies can be the result. In many cases, a gene mutation during the development of the zygote means the death of the organism. This is the case when the mutation so massively impairs development that the functionalities of the individual organs and proper growth can no longer succeed. Carriers of gene mutations can experience various effects from them, which usually become apparent from birth at the latest. Serious organ malformations and subsequent growth disorders are particularly common effects, which can, however, be counteracted surgically. Complications occur in this context regardless of medical treatment because they are genetic.
When should you go to the doctor?
A visit to the doctor is necessary when a gene mutation is present. Because the symptoms of this condition depend greatly on its severity, it is not possible to make a general prediction about symptoms. However, a gene mutation is often detected before the child is born. Various doctors must also be consulted after birth if the child suffers from mental or motor disabilities, for example. Various hearing or vision problems should also be examined by a doctor. The earlier the gene mutation is detected, the better the further course of the disease. A doctor should also be consulted if a gene mutation leads to psychological complaints or concentration problems. This can prevent further complaints and complications in the adult life of the affected person. Since the parents or relatives themselves often also suffer from psychological complaints, care should also be sought for them. Psychological treatment is also recommended in case of abortion due to the gene mutation.
Treatment and therapy
Treatment or therapy for a gene mutation always depends on the symptoms. Depending on which organ, tissue, or system is affected, the therapy must be based on that. For this reason, a clear diagnosis and long-term observation are necessary. Only from this results the decision for a certain therapy. One therapy usually consists of giving the affected person substitutes in the form of medication that his body is unable to produce. Another form of therapy takes effect where the affected person cannot tolerate certain things, in that he must learn to do without them or to avoid them. A third type of therapy form is a physiotherapeutic one, in that the affected person learns to compensate for non-functioning body systems.
Outlook and prognosis
Mutation of genes is an unalterable process of the organism. It originates in the womb and cannot be corrected. Since for legal reasons it is not allowed to interfere with the genetics of human beings, according to the current status, no changes in the genetic material take place. The gene mutation can trigger a variety of different diseases or disorders. Most of them present themselves as a disadvantage in the course of life or are life-threatening. Only rarely are improvements in health documented as a result of the gene mutation. In some mutations, there is no chance of survival for the affected person. In these cases, stillbirth may occur or life expectancy may be a few hours, weeks or years. Medical care provides for timely diagnosis. If the genetic mutation is detected early, relatives can make preparations in the necessary care of the possible offspring or decide to abort in case of severe genetic disorders. The treatment of the patient is aimed at alleviating the individual symptoms. The administration of medications, early intervention programs as well as surgical interventions are designed to promote the patient’s potential possibilities and minimize existing damage. The optimization of the quality of life and the prolongation of life expectancy are the central focus, since a cure is not possible due to the legal requirements.
Prevention
Only by avoiding the mutagens, i.e. the triggering factors as described above, can the probability of a gene mutation be reduced. Most mutations are either automatically repaired by the body or the affected cells die. Gene mutation is also one of the most common causes of miscarriage – in this case the organism is not viable due to gene mutation. Thus, it is hardly possible to actively contribute for or against a gene mutation.
Follow-up
There is no aftercare for a gene mutation per se. This is because a gene mutation is a process inside the genetic material, which is beyond the reach of physicians. Either the mutation is congenital and leads to more or less severe effects. Or the gene mutation is acquired, which is relevant at most in germ cells. However, it is difficult to prove this. In the case of gene mutations that have a high chance of inheritance and lead to disease, family planning can be part of the individual follow-up. Accordingly, affected individuals may voluntarily refrain from fathering children with the same mutation. Therapy is possible in very few cases. The individual case must be weighed up here. Otherwise, aftercare measures refer to the respective diseases and syndromes that can be related to gene mutations. These include, for example, follow-up care for sickle cell anemia or hemophilia. Still other conditions that are due to gene mutations do not require any measures at all. This applies, for example, to color vision deficiency or the heterozygous variant of sickle cell anemia. The latter leads to almost no limitations, but brings with it resistance to malaria. Meanwhile, most gene mutations remain unnoticed and accordingly cannot be treated, nor is follow-up appropriate.
What you can do yourself
The possibilities of self-help of a gene mutation depend on the damaged genes and their effects on the organism. Normally, the patient cannot achieve a change in the disease by his own efforts. The self-healing powers have no influence on genetic predispositions. Often the help in everyday life lies in learning a good way of dealing with the genetic mutation. This often applies to the patient as well as his close relatives. The well-being and quality of life should be promoted and stabilized despite all impairments. Measures to reduce stress help immensely. This can be done by talking to therapists, friends or relatives. The common exchange conveys a feeling of security and gives new vitality. In addition, relaxation methods help to build up or maintain mental strength. In self-help groups, those affected can exchange ideas and talk about their experiences in everyday life. Tips and advice for improved lifestyle help and give new confidence. They also promote optimistic thinking. Patients with a gene mutation are often dependent on everyday help, as they are unable to carry out many procedures independently. Relatives should therefore focus early on activities or activities in which the patient has a good chance of success. Self-esteem is built up and promoted by recognizing one’s own competencies.
