Hereditary Disease - Mutation of Human Genes

Hereditary diseases have an etiological factor in the form of mutations, which are not only the cause of abnormalities, but also affect their pathogenesis. In these cases, there is a hereditary predisposition.

Hereditary mutations are divided into gene and chromosomal diseases. The former are transmitted without any changes over generations, due to the action of the mutated gene, and their pathogenesis is associated with the primary products of genes (anomalous structure, lack of enzymes or protein).

Chromosomal hereditary diseases are classified according to the type of mutations into syndromes, which are caused by numerical (aneuploidy, polyploidy) and structural (duplication, translocation, inversion, deletion) rearrangements. There is also a division into mono- and polygenic diseases. The latter are often due to hereditary predisposition.

Another group are deviations that occur when the fetus and mother are incompatible with antibodies. An example is the hemolytic disease of newborns.

Human hereditary diseases are largely associated with the condition of the parents on the maternal side. So, if the mother had breast cancer, then there is a high probability of encountering a similar problem. And in the presence of a close relative with this diagnosis, the probability of the disease doubles. If a person is at risk, it is recommended to do mammograms annually. It is believed that mutated genes transmitted from the mother or father cause breast cancer. If the genes function normally, then the cells of the mammary glands develop favorably, and if cancer occurs, breast cancer can begin.

If a mother at a venerable age broke a bone with a small drop or became lower in growth, then osteoporosis occurs. Her children have a high risk of the same ailment. Similar hereditary diseases are very common in families. A person is not able to influence his genes and eliminate various risk factors (age, gender). However, there are ways to keep bones healthy and reduce risks. To do this, you need to follow a diet enriched with vitamin D and calcium, exercise, exclude smoking and alcohol.

Heart diseases are considered to be mainly male. However, they are the main cause of female mortality and are hereditary. High blood pressure (hypertension), cholesterol and diabetes are the main risk factors that result in heart disease and have a genetic predisposition. You can reduce the likelihood of an ailment by adhering to a healthy lifestyle and controlling the effects of stress. To take control of the disease, you must undergo regular medical examinations.

Depression also belongs to the category of hereditary human disease. Its development is affected by genes, hormonal composition, chemical imbalance of the brain, the presence of stressful events. If the parents suffered from this disease, then the children also have the same tendency. If you have a family history of illnesses, you need to monitor mood changes in order to consider the problem early and take up its treatment.

Autoimmune hereditary diseases mainly affect only women and are transmitted from mother to daughter. If the parent was sick with rheumatoid arthritis, insulin-dependent diabetes mellitus or other autoimmune disease, there is a high probability of its transmission to the next generation. These disorders are not necessarily associated with the same disease. For example, one member of a family develops a celiac disease, and the other has multiple sclerosis.


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