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Your search keyword '"Nataliia Gorovenko"' showing total 6 results
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6 results on '"Nataliia Gorovenko"'

1. The neuronal ceroid lipofuscinosis type 2 – associated variants: An analysis of alterations in the TPP1 gene and genotype–phenotype correlation in Ukraine

Author

Nataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, Rodolfo Tonin, Svitlana Kormoz, Iryna Hregul, Nataliia Samonenko, Tetiana Shklyarskaya, Volodymyr Olkhovych, Olexandr Buryak, Amelia Morrone, and Nataliia Gorovenko

Subjects
genotype–phenotype correlation, neuronal ceroid lipofuscinosis type 2, TPP1 enzyme deficiency, TPP1 gene, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
Abstract

Abstract The neuronal ceroid lipofuscinosis type 2 (CLN2) is a heterogeneous group of neurodegenerative lysosomal storage disorders caused by autosomal recessive inheritance of two pathogenic variants in trans in the TPP1 gene. Classical late‐infantile CLN2 disease has a very well‐defined natural history. However, a small number of patients with TPP1 enzyme deficiency present a later onset or protracted disease course within this group there are phenotypic variants. Our work aimed to identify pathological variants in the TPP1 gene that conditioned the development of CLN2 disease in Ukrainian patients, to compare these variants with those found in patients from other European and non‐European regions, and to make genotype–phenotype associations for this disease. The phenotypes and genotypes of the 48 CLN2‐affected individuals belonging to 43 families were profiled through clinical data collection, enzyme analysis, and genotyping. In most patients, genotype and phenotype correlation are in keeping with the data of previous studies. The clinical signs of the disease in patients with new, previously undescribed variants, allowed us to augment existing data about genotype–phenotype correlations for CLN2 disease. The combination of genotype and clinical form of the disease demonstrated that predicting the type and clinical course of the disease based on genotype is very complicated. The data we obtained supplements existing information on genotype–phenotypic correlations in this rare disease, which, in turn, lays the foundation for a personalized approach to the management of this disease.

Published
2024
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2. The analysis of using a panel of the most common variants in the PAH gene for the newborn screening in Ukraine

Author

Liliya Fishchuk, Zoia Rossokha, Natalia Olkhovich, Nataliia Pichkur, Olena Popova, Nataliia Medvedieva, Viktoriia Vershyhora, Olha Dubitska, Tetiana Shkurko, Larysa Popovych, Olga Bondar, Irina Morozuk, Svitlana Onyshchenko, Lyubov Yevtushok, Oksana Tsizh, Iryna Bryl, Olena Tul, Svitlana Kalynka, Iryna Zinkina, Svitlana Matviiuk, Yulianna Riabova, and Nataliia Gorovenko

Subjects
Phenylketonuria, Screening, PKU, PAH, Gene, Ukraine, Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract

Phenylketonuria (PKU) is hyperphenylalaninemia that develops due to a deficiency of the phenylalanine hydroxylase enzyme (PAH). Identification of variants in the PAH gene is necessary for verification of the diagnosis, choice of treatment tactics, detection of heterozygous carriers. The aim of the study was to analyze the effectiveness of identification of selected pathological variants in the PAH gene during the newborn screening program. This study relied on the results of the examination of 257 patients (138 boys and 119 girls) with hyperphenylalaninemia from different regions of Ukraine. Genotyping was performed on nine pathogenic variants in PAH gene: I65T, R261Q, G272*, R252W, R261*, R408W, IVS12 + 1G > A, Y414C, IVS10-11G > A. According to the results of the study, variants R408W (AF = 52.7%), R252W (AF = 3.5%) and Y414C (AF = 1.8%) were the most common. More than half of the examined patients (51.7%) had a compound genotype with a major variant of R408W in one allele. Approximately a quarter of the examined patients (26.8%) had the R408W/R408W genotype. In 12.1% of patients, the applied panel of variants of the РАН gene did not allow us to identify the pathogenic variant in any allele. We conclude that the selected panel allowed us to identify the presence of variants in 87.9% of patients with PKU. The panel of genetic testing in the PAH gene for the newborns that we used for the study allows accurate prediction of some phenotypes for therapy planning. But in-depth analysis of pathological gene variants may be necessary for unclear and difficult cases of the disease, and for genetic counseling of patients families.

Published
2022
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4. SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants as potential clinical biomarkers for personalized treatment strategy selection in patients with severe COVID-19 pneumonia

Author

Liliia Fishchuk, Zoia Rossokha, Valeriy Pokhylko, Yuliia Cherniavska, Olena Popova, Viktoriia Vershyhora, Serhii Kovtun, and Nataliia Gorovenko

Subjects
Pulmonary and Respiratory Medicine
Abstract

Exploring the pathogenetic mechanisms behind severe lung damage in COVID-19 is crucial. In this study, we decided to focus on two molecular markers that affect surfactant metabolism and lung development: the surfactant protein B (SFTPB) and the glucocorticoid receptor (NR3C1) genes. The aim of our study was to determine the effect of SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants on the course of the disease in patients with COVID-19, and the treatment measures they required.The study group included 58 patients with a diagnosis of severe "viral COVID-19 pneumonia." Determination of SFTPB and NR3C1 gene variants was performed using the PCR-RFLP method.Our results indicate that the presence of the SFTPB gene CC genotype increases the risk of developing acute respiratory distress syndrome in patients with COVID-19 (χThe obtained results confirm the influence of the SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants on the therapy, course, and severity of the disease in patients with COVID-19. Of course, these results require further study, analysis, and larger, complex, systematic research.

Published
2023
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5. Hyperhomocysteinemia in men and women of married couples with reproductive disorders. What is the difference?

Author

Zoia Rossokha, Liliya Fishchuk, Liudmyla Vorobei, Nataliia Medvedieva, Olena Popova, Viktoriia Vershyhora, Larysa Sheyko, Ljudmila Brisevac, Dmytro Stroy, and Nataliia Gorovenko

Subjects
Reproductive Medicine, Urology
Abstract

Hyperhomocysteinemia (HHcy) is an autosomal recessive inherited metabolic disease caused by variations in folate metabolism genes, characterized by impaired methionine metabolism and accumulation of homocysteine (Hcy) in the blood serum. It was shown that men usually have higher plasma Hcy levels than women, but have not yet assessed the leading factors of these differences, which is important for the development of personalized protocols for the prevention of folate metabolism disorders in couples with reproductive disorders. This study aimed to analyze the effect of intergenic and gene-factor interactions on the risk of developing HHcy in men and women of married couples with reproductive disorders. In our study were involved 206 married Caucasian couples (206 males and 206 females) from central regions of Ukraine with early pregnancy losses in the anamnesis. We found that the incidence of HHcy in men was significantly higher than in women. Gender differences in folic acid and vitamin B12 levels were identified. The best predictors of HHcy in men (

Published
2022
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6. Betaine consumption as a new clinical approach to treatment and prophylaxis of folate-related pathologies

Author

Krystyna Yeroshkina, Zoia Rossokha, Liliya Fishchuk, and Nataliia Gorovenko

Subjects
Nutrition and Dietetics, Medicine (miscellaneous)
Abstract

The most important pathway in the development of folate-related pathologies is an increase in the level of homocysteine (HC). HC, a cytotoxic and neurotoxic amino acid (when its level is ≥12 μmol/L), is 1 of the most widely studied compounds in cardiology, neurobiology, oncology, and embryology for the last 20 years. Given its toxicity, the processes of endogenous detoxification of HC are of particular interest to medicine. To date, the most studied pathway is that of remethylation (the conversion of HC to methionine), with the participation of B12- and B9-dependent methionine synthase. Less studied is remethylation with the participation of the choline derivatives betaine and betaine-HC-S-methyltransferase (BHMT). Therefore, the aim of this review was to conduct a theoretical analysis of available information regarding the contribution of betaine metabolism, its enzyme, and its genetic polymorphism to folate metabolism disturbances, and the development of folate-related pathologies. This review emphasizes the potential clinical significance of 2 factors that can influence the remethylation reaction of HC: the use of betaine and identifying the BHMT gene variants and their impact on the risk for developing certain folate-related pathologies, and treatment options. Moreover, with a high level of methylation of the BHMT gene and in the presence of its low-function variants (eg, rs3733890), it is necessary to use betaine as an additional methyl donor, especially during folate therapy. More clinical research is needed to identify the effects of the different BHMT gene variants on the individual risk for folate-related pathologies to better assess the clinical significance, the need for genetic testing, and betaine consumption.

Published
2022

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