Search academic texts

Information × Registration Number 0218U002462, 0115U003006 , R & D reports Title Evaluation of the role of genetic factors in the formation and progression of lysosomal diseases of the accumulation for clinical and laboratory diagnostics optimization. popup.stage_title Head Gorovenko Natalia G., Registration Date 15-03-2018 Organization Institute of genetic and regenerative medicine Acad.Med.Sci. of Ukraine popup.description2 Lysosomal storage diseases (LBN) are a large group of rare (orphan) hereditary diseases. Most of these diseases are associated with a violation of the function of certain lysosomal enzymes and is characterized by clinical polymorphism and genetic heterogeneity. The object of research is genetic and biochemical markers of the development of LDN. The purpose of the work is to develop an algorithm for clinical and laboratory diagnosis of LBN by evaluating the validity of different biochemical and molecular genetic methods to provide early and accurate differential diagnosis and the further timely assignment of specific treatment. The boundaries of the biological variation of age values of the amount of GAG in the urine of healthy people and patients with MPS, of acidic b-galactosidase and lysosomal enzymes involved in the intralysosomal degradation of glycosaminoglycans for the population of Ukraine and patients with GM1-gangliosidosis and Morkio B syndrome were first established. The six mutations in the GLB1 gene, not described in the literature, in patients with GM1-gangliosidose, three in the IDUA gene in patients with type 1 MPS and three in the SGSH gene in patients with type III MPS. It is shown that the frequency of mission mutations of the r. His281Tyr in patients with GM1-gangliosidosis in Ukraine is 37%, which is significantly higher than in other countries. The algorithms of the optimal laboratory examination of persons with suspicion of LNN are developed, which take into account the peculiarities of biochemical and molecular-genetic characteristics of the population of Ukraine and provide early and accurate diagnosis of pathology. Product Description popup.authors Мицик Н.Й. Ольхович Н.В. Трофімова Н.С. popup.nrat_date 2020-04-02 Close