[Molecular-genetic mechanisms of the pathogenesis of human diseases related to disorders of processes involved in the repair of DNA damage].

One of the major systems providing cellular homeostasis is a system of DNA repair. Disorders of this system lead to the development of certain diseases, transformation of a normal cell into a malignant one, premature aging of a cell. The activity of reparative systems is related with an enzyme complex controlled by the corresponding genes. A number of hereditary diseases is described in which disturbances in the DNA reparative processes induced by physical or chemical mutagenes are found. Some diseases are also characterized by genome instability due to which there is a spontaneous increase in chromosome aberrations or sister chromatid exchanges. The impairment of the reparative DNA processes was first found in the author's laboratory in a number of hereditary diseases (Marfan's syndrome, homocystinuria) and diseases with hereditary prerisposition (schizophrenia). It is suggested that disorders of reparative DNA systems form the basis for molecular and genetic mechanisms of pathogenesis both in hereditary diseases, and the diseases with hereditary predisposition. Knowledge of the molecular level of cell organization in the pathologic state will ensure new methods of diagnosis and treatment.