Comparative studyng the genomic parameters by patiemts with Hypertrophic cardiomyopathy and theis relatives

Author: salome maglakelidze
Keywords: hipertrophic cardiomyopathy
Annotation:

Hypertrophic cardiomyopathy (HCM) is a genetically determined disease. In 45% of cases the disease has Family nature and this indicates the leading role of genotype in the development of disease. Therefore, special attention is given to the definition of functional characteristics of the genotype variation, as in individuals with cardiomyopathy, as well as their first-degree relatives, for display the possible risk – groups. This fact, and the increase of frequency HCM individuals, caused the actuality of the selected theme for graduate thesis. In this work a comparative study of the functional genome indicators using lymphocyte cultures of patients with hypertrophic cardiomyopathy (HCM) and their first relatives. Studies conducted both in intact cultures and cultures exposed to the influence of peptide-bioregulators Epitalon, Vilon and Livagen. Last tested at separate and joint application with cobalt chloride salt. As indicated according to the results of the analysis, the cells of the individuals with HCM and their relatives were characterized by higher frequency of spontaneous quanitative - structural disorders in comparison with the cells of healthy individuals. The findings suggest a different effect of bioregulators. The most effective protective action in relation normalization of functional parameters of the genome shows Epithalon for lowering the level of chromosomal instability in patients and their relatives. On the basis of identified protective action Epithalon concludes prospects of its application in the development of preventive measures for individuals at increased risk of morbidity HCM. The rate of sister chromatid exchanges (SCE) was studied in the individuals with HCM and their relatives. The average numbers of Total SCEs per cell in affected patients and their relatives were not significantly changed when compared to the average indices for a control group. Differential changes in SCE distribution was revealed inside chromosome groups. The findings suggest a different effect of bioregulators.