Hereditary diseases - mutations 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 first are transmitted without any changes during generations, which is due to the mutated gene, and their pathogenesis has a connection with the primary products of the genes (abnormal structure, absence of enzymes or protein).

Chromosomal hereditary diseases are classified by type of mutations into syndromes, which are caused by numerical (aneuploidy, polyploidy) and structural (duplications, translocations, inversions, deletions) by alterations. There is also a division into mono- and polygenic diseases. The latter are often due to a hereditary predisposition.

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

Human hereditary diseases are largely related to the state of parents on the maternal line. So, if a mother had breast cancer, then there is a high probability of a collision with a similar problem. And in the presence of a close relative with this diagnosis, the probability of disease is doubled. If a person is at risk, it is recommended to do mammograms every year. It is believed that breast cancer causes mutated genes transmitted from the mother or father. If the genes function normally, the cells of the mammary gland develop favorably, and if there are violations, breast cancer can begin.

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

Heart diseases are usually considered to be male. However, they are the main cause of female mortality and are hereditary. Elevated blood pressure (hypertension), cholesterol and diabetes are the main risk factors that result in heart disease and have a genetic predisposition. Reduce the likelihood of an illness can be, adhering to a healthy lifestyle and controlling the impact of stress. To take the disease under control, it is necessary to undergo regular physical examinations.

Depression also belongs to the category of human hereditary disease. Its development is influenced 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 changes in mood, in order to consider the problem early and take up its treatment.

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