What are genetic mutations?
Genetic mutations: what they are and their consequences
DNA chains (or strands) are linked together in a natural and harmonious way. What happens when there is a mutation ? These chains either have a variation in the chromosomes , or missing genes , or a change in the genes , or there are variations in the DNA nucleotides . The result is that the DNA has a variation from its normal arrangement and proportion.
Genetic mutations can be identified before a person is born. However, it is equally possible to diagnose this with a genetic test in a laboratory. In this way, future predispositions or existing conditions can be identified.
What is the origin of genetic mutations?
The origins of genetic mutations can be of two types: genetic inheritance or de novo . This is important to know because, in these circumstances, the course of action should be different.
Genetic mutations occur when one (or both) of the parents already carry the mutation. Depending on whether it's a dominant or recessive gene, the chances of the offspring having the mutation are higher or lower. Precisely for this reason, it's advisable to have a prior genetic compatibility test if you're planning to conceive.
The second assumption, and no less important, is that of mutations de novo . And the reasons can be various. For example, prolonged exposure to toxic chemicals or the sun, but also a poor diet with excess fat or, simply, aging.
Indeed, there is a part that is beyond our control, but it is possible to detect and anticipate these situations and, with good habits, prevent them from occurring.
The consequences of genetic mutations
The first thing to note is that the vast majority of genetic mutations experienced are harmless , or, in other words, have no health effects. After all, there are many situations that can involve small mutations in DNA strands.
However, it should be noted that in some cases they do cause congenital diseases. In fact, 80% of those considered rare diseases are caused by some type of genetic mutation. And, in this case, we must affirm that most mutations are a product of genetic inheritance .
Another important point is that, if a genetic mutation isn't tested, the results of a genetic mutation aren't always immediately apparent. Although most of these conditions can be identified during the first months or years of life, others only appear in adulthood. For this reason, it's highly recommended to have a genetic test done as soon as possible.
The existing caseload is therefore very varied. The most common congenital diseases you may encounter as a result of genetic mutations are the following:
1. Muscular dystrophy
Muscular dystrophy is one of the rare diseases associated with a mutation. Specifically, we refer to Duchenne and Becker muscular dystrophies. It generally affects males, and the main consequence is a progressive loss of muscle mass. Although there are several types of dystrophies, these are the most common.
2. Hemophilia
Hemophilia is a disease usually transmitted through the mother. It results from a chromosomal abnormality, a mutation, and is one of the most common hereditary conditions . Basically, the main problem is the risk of bleeding from minor wounds due to the lack of platelet accumulation.
3. Achondroplasia
Achondroplasia is another hereditary disease resulting from a dominant gene mutation. The main associated symptom is that sufferers are shorter than normal in stature . It is a condition that is easily detected relatively early.
4. Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease is a type of muscle atrophy in the lower legs. It typically involves dysfunctions within the nervous system of the legs, making it a degenerative condition.
5. Cystic fibrosis
Cystic fibrosis is a hereditary disease that affects several areas of the body. The lungs, digestive system, and other areas are affected by mucus and secretions. It is also called familial hypercholesterolemia. As a result, normal organ function is more difficult.
6. Neurofibromatosis
Neurofibromatosis is another common inherited genetic disorder . It basically involves the development of multiple tumors located in different areas of the body. Although the severity varies depending on the case, this is a complicated situation.
7. Osteogenesis
Osteogenesis is a hereditary condition that causes bone fragility . The practical result is that the risk of bone fractures is much higher, and this tendency is particularly prevalent during childhood. This delays bone development, which is why the condition is called "brittle bones." The good news is that it is possible to lead a relatively normal life, especially in adulthood.
8. Huntington's disease
Huntington's disease can be inherited in 50% of cases if one of the parents has a defective mutated gene copy. Unlike other types of congenital diseases, this doesn't manifest until a person reaches a certain age. The consequence is a progressive degradation of nerve cells , which leads to problems in the muscles and brain.
9. Retinitis
Retinitis is a degenerative congenital disease that begins to manifest in childhood, but the most serious effects usually occur in adulthood. The main problem with this condition is that it causes progressive blindness . Therefore, early detection if there is a family history is key.
In conclusion
Genetic mutations , for many reasons, are one of the elements that should be known, and even better beforehand. At Genotica , you'll find a complete comparison of the best genetic tests on the market, by price and parameters. Contact us to learn more!