Gastric cancer (GC) is one of the most common and difficult diseases to treat. The study of signaling pathway regulation by microRNA provides information on the mechanisms of GC development and is the basis for biomarker creation. In this study, a circuit of microRNA interactions with signaling pathways was constructed. The microRNAs, associated with metastasis and chemoresistance, are described. In most cases, microRNAs in GC regulate the Wnt/β-catenin, PI3K/AKT/mTOR, RAS/RAF/ERK/MAPK, NF-kB, TGF-β, and JAK/STAT pathways. Part of the microRNA acts on several target genes that function in different pathways. This often leads to an intensification of the induced processes. MicroRNAs have also been described that have the opposite effect on different pathways, causing different functional consequences. By acting on several target genes, or genes associated with several pathways, microRNAs can function in a signaling network. MicroRNAs associated with metastasis most often interact with the Wnt/β-catenin pathway. MicroRNAs affecting chemoresistance, in most cases, affect the regulators of apoptosis and are associated with the PI3K/AKT/mTOR pathway. The characteristics of microRNAs proposed as candidates for GC biomarkers were analyzed. The currently developed diagnostic and prognostic panels of microRNAs are also considered.

5q spinal muscular atrophy (5q SMA) is one of the most common autosomal recessive disorders in the Russian Federation. The first medication to treat 5q SMA was registered in the Russian Federation for treatment of all 5q SMA types in 2019, and the last of the three currently available in December 2021. We launched the pilot newborn screening (NBS) program for 5q SMA in Moscow, the Russian Federation, starting in 2019. During the pilot program, 23,405 neonates were tested for the deletion of exon 7 of the SMN1 gene, the most common cause of 5q SMA. We used the SALSA^® MC002 SMA Newborn Screen Kit (MRC Holland) to specifically detect homozygous deletions of SMN1 exon 7. We used the restriction fragment length polymorphism (RFLP) approach to validate detected homozygous deletions and the SALSA MLPA Probemix P060 SMA Carrier Kit (MRC Holland) to determine the SMN2 exon 7 copy number to prescribe gene therapy for 5q SMA. Three newborns with a homozygous deletion of the SMN1 gene were detected. The calculated birth prevalence of 1:7801 appears to be similar to the results in other European countries. The children did not show any signs of respiratory involvement or bulbar weakness immediately after birth. Until now, no 5q SMA case missed by NBS has been detected.

Introduction. Cardiovascular disease (CVD) remain the leading cause of death in industrialized countries. Patients with coronary heart disease (CHD) in combination with diabetes mellitus type 2 (T2DM) are characterized by more severe CHD and poor prognosis. Resent data indicate microRNAs (miRNAs) as important participants in the pathogenesis of various pathological conditions, including obesity, T2DM and CVD.The aim of this study was to determine expression of miRNAs associated with the development of CHD, and transforming growth factor beta (TGF-β) in a patients with T2DM and obesity Materials and methods. 42 patients with 1-2 degrees obesity and diagnosed T2DM were divided into 2 groups. The first group with CHD, the second group - without CHD. 9 miRNAs were evaluated: miRNA-1, miRNA-21, miRNA-26a, m miRNA-27, miRNA-33a, miRNA-33b, miRNA-133a, miRNA-133b, miRNA-208.Results and discussion. Significant differences were found in expression of miRNA-21, miRNA-26a, miRNA27a. An increased expression of miRNA-21, miRNA-27a was found in patients CHD while the expression of miRNA-26a was reduced in comparison with the group without CHD.Conclusion. The results of this study may be an initial step for the detection of molecular basis in CHD pathogenesis in these patients by quantifying miRNA expression. Introduction. Cardiovascular disease (CVD) remain the leading cause of death in industrialized countries. Patients with coronary heartdisease (CHD) in combination with diabetes mellitus type 2 (T2DM) are characterized by more severe CHD and poor prognosis. Resent data indicate microRNAs (miRNAs) as important participants in the pathogenesis of various pathological conditions, including obesity, T2DM and CVD.The aim of this study was to determine expression of miRNAs associated with the development of CHD, and transforming growth factor beta (TGF-β) in a patients with T2DM and obesity Materials and methods. 42 patients with 1-2 degrees obesity and diagnosed T2DM were divided into 2 groups. The first group with CHD, the second group - without CHD. 9 miRNAs were evaluated: miRNA-1, miRNA-21, miRNA-26a, m miRNA-27, miRNA-33a, miRNA-33b, miRNA-133a, miRNA-133b, miRNA-208.Results and discussion. Significant differences were found in expression of miRNA-21, miRNA-26a, miRNA27a. An increased expression of miRNA-21, miRNA-27a was found in patients CHD while the expression of miRNA-26a was reduced in comparison with the group without CHD.Conclusion. The results of this study may be an initial step for the detection of molecular basis in CHD pathogenesis in these patients by quantifying miRNA expression.

Breast cancer is the 2nd most common malignant disease after lung cancer; about 1 in 8 women will develop breast cancer in her lifetime. Cancer progression is a serious complication of the disease that encourages comprehensive investigation of molecular mechanisms underlying breast cancer development. This is also important for healthcare professionals involved in patient management, since they have to choose an optimal treatment regimen. This article discusses the role of microRNAs in the development of breast cancer, their biogenesis, classification, association with various molecular subtypes of breast cancer, and their potential role in the development of new targeted drugs for breast cancer therapy. Current research on the role of microRNAs in breast cancer progression is focused on the development of markers for breast cancer prognosis, diagnostic markers and new targeted drugs.

Breast cancer (BC) is the second most common type of cancer worldwide and affects 1 in 8 women over the course of their lifetime. A personalized approach to treating BC can substantially increase efficiency and consequently maintain the active life of many people. This encourages investigators and physicians to better understand tumor biology in order to make a correct diagnosis, to determine recurrence risk, and to choose adequate therapy. This paper discusses the bases for the molecular classification of BC into its expression subtypes, as well as current prognostic kits that assist oncologists in classifying the subtypes of cancer and in predicting the development of the disease. The existing test systems are not universal, each of them is applicable only to a limited group of patients, but they totally cover a considerable number of cases. The tumor gene mutations in BC, which have been characterized by up-to-date methods, can serve as predictive markers for the efficiency of targeted therapy.