Molecular Genetic Studies Research Articles

Airborne DNA: State of the art - Established methods and missing pieces in the molecular genetic detection of airborne microorganisms, viruses and plant particles.

Bioaerosol is composed of different particles, originating from organisms, or their fragments with different origin, shape, and size. Sampling, analysing, identification and describing this airborne diversity has been carried out for over 100 years, and more recently the use of molecular genetic tools has been implemented. However, up to now there are no established protocols or standards for detecting airborne diversity of bacteria, fungi, viruses, pollen, and plant particles. In this review we evaluated commonalities of methods used in molecular genetic based studies in the last 23 years, to give an overview of applicable methods as well as knowledge gaps in diversity assessment. Various sampling techniques show different levels of effectiveness in detecting airborne particles based on their DNA. The storage and processing of samples, as well as DNA processing, influences the outcome of sampling campaigns. Moreover, the decisions on barcode selection, method of analysis, reference database as well as negative and positive controls may severely impact the results obtained. To date, the chain of decisions, methodological biases and error propagation have hindered DNA based molecular sequencing from offering a holistic picture of the airborne biodiversity. Reviewing the available studies, revealed a great diversity in used methodology and many publications didn't state all used methods in detail, making comparisons with other studies difficult or impossible. To overcome these limitations and ensure genuine comparability across studies, it is crucial to standardize protocols. Publications need to include all necessary information to enable comparison among different studies and to evaluate how methodological choices can impacts the results. Besides standardization, implementing of automatic tools and combining of different analytical techniques, such as real-time evaluation combined with sampling and molecular genetic analysis, could assist in achieving the goal of accurately assessing the actual airborne biodiversity.

Fine construction of gene coexpression network analysis using GTOM and RECODE detected a critical module of neuroblastoma stages 4 and 4S.

Stage 4 neuroblastoma (NBL), a solid tumor of childhood, has a poor prognosis. Despite intensive molecular genetic studies, no targetable gene abnormalities have been identified. Stage 4S NBL has a characteristic of spontaneous regression, and elucidation of the mechanistic differences between stages 4 and 4S may improve treatment. Conventional NBL studies have mainly focused on the detection of abnormalities in individual genes and have rarely examined abnormalities in gene networks. While the gene coexpression network is expected to contribute to the detection of network abnormalities, the fragility of the network due to data noise and the extraction of arbitrary topological structures for the high-dimensional network are issues. The present paper concerns the classification method of stages 4 and 4S NBL patients using highly accurate gene coexpression network analysis based on RNA-sequencing data of transcription factors (TFs). In particular, after applying a noise reduction method RECODE, generalized topological overlapping measure (GTOM), which weighs the connections of nodes in the network structure, succeeded in extracting a cluster of TFs that showed high classification performance for stages 4 and 4S. In addition, we investigated how these clusters correspond to clinical information and to TFs which control the normal adrenal tissue and NBL characters. A clustering method is presented for finding intermediate-scale clusters of TFs that give considerable separation performance for distinguishing between stages 4 and 4S. It is suggested that this method is useful as a way to extract factors that contribute to the separation of groups from multiple pieces of information such as gene expression levels.

Myocarditis in children. Modern aspects of diagnostics

Introduction. A review of the current literature on the features of the diagnosis of myocarditis in children is presented. Myocarditis is an acute or chronic inflammatory myocardial disease characterized by a variety of clinical manifestations, nonspecific symptoms and physical data. With insufficient number of informative diagnostic tests, there is a challenge for practitioners at all stages of medical care. Aim of the review is to comprehensively present the features of the clinical diagnosis of myocarditis in children. The presence of myocarditis should be assumed in situations where children, regardless of the age, first developed symptoms of heart failure (HF), as well as in the presence of a clinic of viral infections accompanied by respiratory or abdominal symptoms, combined with the development of tachycardia, hypotension or cardiac arrhythmias, even in the absence of cardiomegaly. Myocarditis should be clinically suspected at the stage when the necessary decisions should be made about the patient’s routing, the formation of a complex of diagnostic examinations and the start of therapy. Magnetic resonance imaging (MRI) of the heart is today the non-invasive gold standard for the diagnosis of myocarditis that allows detecting myocarditis within 2–3 weeks after the first symptoms appear. Endomyocardial biopsy can be used for accurate morphological diagnosis of myocarditis in children. Molecular biological and genetic studies that determine the severity and outcome of the disease are important for the diagnosis of myocarditis in children. Conclusion. Based on the literature data and own experience in diagnosing myocarditis, the authors have developed an original diagnostic algorithm to make the right medical decision in case of suspected acute myocarditis in children.

Genetic Insights and Epidemiological Models in Understanding Primary Open Angle Glaucoma

Primary open-angle glaucoma (POAG) is a multifactorial chronic optic neuropathy with significant genetic heterogeneity. The pathogenesis of POAG involves an imbalance between the production and drainage of aqueous humor (AH). Genetic theories suggest that transgenic mice demonstrating the GLU50LYS mutation in optineurin (OPTN) experience retinal ganglion cell apoptosis, while mutant myocilin (MYOC) proteins induce endoplasmic reticulum (ER) stress, leading to an unfolded protein response (UPR) and subsequent apoptosis of trabecular meshwork cells (TMC). Furthermore, the interaction between MYOC and mitochondria in the trabecular meshwork (TM) and astrocytes may lead to mitochondrial membrane depolarization and calcium channel dysregulation, contributing to POAG. Overexpression of MYOC variants (P370L, Q368X) is also implicated, as are epigenetic modifications and signaling pathways such as histone and DNA modification. POAG has been associated with autosomal dominant inheritance, with mutations in MYOC and OPTN being prominent causative factors, although many cases involve multiple genetic loci. Currently, over 20 genetic loci have been linked to POAG, with 14 chromosomal loci (GLC1A to GLC1N) identified, 5 of which contribute to juvenile-onset open-angle glaucoma (JOAG). Of these loci, MYOC, OPTN, WD repeat domain 36 (WDR36), and neurotrophin-4 (NTF4) are the most studied causative genes. The ongoing study of molecular genetics offers potential pathways for future therapeutic advances in the treatment of POAG.

Success of Immunopathogenetic Therapy for Management of Congenital Ichthyosis, Combined Form, in a Child: Rare Clinical Case

Background. Congenital ichthyosis (CI) is relating to the group of clinical and genetically heterogeneous severe genodermatoses. SAM syndrome is included in classification of CI syndromic forms. Defects in the desmoplakin (DSP) and desmoglein 1 (DSG1) genes are the prime cause of disease. Impaired function of encoded proteins leads to desmosomal anomalies and disease symptoms. Comorbid atopic syndrome becomes the major cause of diagnostic mistakes. Patients are observed continuously with diagnosis “Atopic dermatitis (AD) torpid to standard treatment methods”. Clinical case description. This article describes a rare case of a boy with severe AD. Despite the chronic dermatosis several systemic disorders were revealed during examination: short stature, protein-energy malnutrition, adrenal insufficiency, juvenile polyarthritis, vitamin D deficiency, onychodystrophy, dysmorphic disorders. Molecular genetic study conducted via high-throughput sequencing followed by validation with Sanger sequencing has revealed two genetic variants: novel variant chr18:28934543G>T in the DSG1 gene in the heterozygous state and pathogenic variant chr5:157468728C>A in the NIPAL4 gene in the homozygous state. As a result, the final diagnosis was established: “SAM syndrome. Congenital ichthyosiform erythroderma”. Flow cytometry immunology study has shown dominant immunological profile of Th17-, and Thact-lymphocyte proliferation. The immunobiological therapy with IL-17A inhibitor, secukinumab, was initiated. Clinical efficacy was evaluated via ISS (Ichthyosis Severity Index), CDLQI (Children’s Dermatology Life Quality Index), pruritus numerical rating scale. ISS was 5.8 points, pruritus scale — 9, CDLQI — 24 at therapy initiation. Improvement in the skin condition was observed after a month of therapy. ISS was 1.2 points, pruritus scale — 2, CDLQI — 4 6 months after the therapy initiation. Conclusion. The diagnosis of a child with combined form of CI made it possible to change the management strategy, to prescribe pathogenetically justified targeted immunobiological therapy, and to achieve significant improvement in the child's health and quality of life, which does not differ from healthy peers.

Molecular Pathophysiology of Parathyroid Tumorigenesis-The Lesson from a Rare Disease: The "MEN1 Model".

Primary hyperparathyroidism represents the third most prevalent endocrine disease in the general population, consisting of an excessive secretion of parathyroid hormone from one or, more frequently, more of the parathyroid glands, leading to a dysregulation of calcium homeostasis. Schematically, its development occurs primarily by pathophysiological events with genetic mutation, at the germline and/or somatic level, that favor the neoplastic transformation of parathyroid cells and promote their aberrant proliferation, and mutations determining the shift in the PTH "set-point", thus interfering with the normal pathways of PTH secretion and leading to a "resetting" of Ca2+-dependent PTH secretion or to a secretion of PTH insensitive to changes in extracellular Ca2+ levels. Familial syndromic and non-syndromic forms of primary hyperparathyroidism are responsible for approximately 2-5% of primary hyperparathyroidism cases and most of them are inherited forms. The history of the genetic/molecular studies of parathyroid tumorigenesis associated with multiple endocrine neoplasia type 1 syndrome (MEN1) represents an interesting model to understand genetic-epigenetic-molecular aspects underlying the pathophysiology of primary hyperparathyroidism, both in relation to syndromic and non-syndromic forms. This minireview aims to take a quick and simplified look at the MEN1-associated parathyroid tumorigenesis, focusing on the molecular underlying mechanisms. Clinical, epidemiological, and observational studies, as well as specific guidelines, molecular genetics studies, and reviews, have been considered. Only studies submitted to PubMed in the English language were included, without time constraints.

Considering Sufficient Weight Loss as a Prerequisite for Development of Anorexia Nervosa and Atypical Anorexia Nervosa.

Because premorbid BMI strongly predicts the amount of weight loss in anorexia nervosa (AN)/atypical AN, we hypothesize that weight loss triggers both disorders by inducing the endocrine adaptation to starvation. We propose research to capture the onset of AN/atypical AN following intentional, otherwise behaviorally motivated, or unintentional weight loss in relationship to premorbid weight. We propose retrospective and prospective studies to examine the temporal development of symptoms in AN/atypical AN. Given a greater frequency of weight loss behaviors in individuals with high BMIs, patients with intentionally driven weight loss should demonstrate a higher mean weight loss and greater premorbid weight and shape concerns. Practice guidelines necessitateweight gain for AN recovery, yet how weight gain induces improvements is unspecified and warrants systematic elucidation. Finally, we highlight implications for the current conceptualization of genetic and environmental contributors of AN/atypical AN in twin and molecular genetic studies. We propose separating the starvation-induced mechanisms relevant for AN/atypical AN development from the reasons/mechanisms inherent to weight loss.

Incidence and Progression of Diabetic Retinopathy in Urban India: Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetics Study, 15yr Follow up

ABSTRACT Purpose: To evaluate the 15 year incidence and progression of Diabetic Retinopathy (DR) and identify risk factors among Indian population. Methods: From a cross-sectional study of 1425 subjects, 911 participants took part in the 4-year follow-up. Out of these 911 participants, 140 returned for the 15-year follow-up, with baseline examinations conducted between 2003 and 2006, and subsequent follow-ups occurring from 2007 to 2011 and the current 15-year follow-up from 2018 to 2021. Of the 140 participants, 112 were eligible for analysis after excluding individuals with ungradable fundus photographs. Results: The 15-year incidence of any diabetic retinopathy (DR) was 5%, with mild NPDR and moderate NPDR at 1.57% and 2.7%, respectively. Proliferative DR was observed in 0.71% of cases, while diabetic macular edema (DME) and sight-threatening diabetic retinopathy (STDR) rates were 0.48% and 1.10%, respectively. Age-standardized rates revealed a significant association with increasing age and incident any DR and STDR. DR progression over 15 years included 7.5% one-step and 1.75% two-step progressions, while regression was limited to 1.75% one-step regression. Multiple logistic regression analyses revealed that baseline duration of diabetes, systolic blood pressure, HbA1c levels, and the presence of anemia influenced the incidence of any DR, DME, and STDR. Smoking and higher HbA1c were identified as risk factors for one-step progression of DR. Conclusion: This study provides crucial insights into the long-term incidence, progression, and regression of DR among individuals with Type 2 diabetes in India.

Новый электрокардиографический феномен при синдроме удлиненного интервала QT: клиническое наблюдение

Long QT syndrome (LQTS) is a disease with a high risk of sudden death in children. Individual prognosis is based on additional, primarily electrocardiological markers. Authors represent a clinical case of a rare variant of electrocardiographic manifestation of LQTS in children that wasn’t described previously. A 6 y/o female patient with LQTS, had no complaints, no syncope or sudden death familial cases. The molecular genetic study revealed a de novo mutation in the SCN5A gene which is typical for the third molecular genetic variant of LQTS (LQT3). Holter monitoring noted “hyperadaptation” of the QT interval (slope QT/RR 0.37 with a norm of up to 0.24). During night sleep, episodes of combined T-wave and QRS complex alternans (AT/AQRS) were detected. This pattern has not been previously described in patients with LQTS. Possible mechanisms and prognostic value for the revealed ECG pattern, issues of treatment of patients with LQT3 are discussed. Conclusion: combined T-wave and QRS complex alternans (AT/AQRS) is a new, previously undescribed ECG phenomenon in patients with LQTS that is highly likely to increase the risk for cardiac events. Thus the “hyperadaptation” of the QT interval may be one of the electrocardiological signs of LQT3.

Unlocking epigenetic breeding potential in tomato and potato

AbstractTomato (Solanum lycopersicum) and potato (Solanum tuberosum), two integral crops within the nightshade family, are crucial sources of nutrients and serve as staple foods worldwide. Molecular genetic studies have significantly advanced our understanding of their domestication, evolution, and the establishment of key agronomic traits. Recent studies have revealed that epigenetic modifications act as “molecular switches”, crucially regulating phenotypic variations essential for traits such as fruit ripening in tomatoes and tuberization in potatoes. This review summarizes the latest findings on the regulatory mechanisms of epigenetic modifications in these crops and discusses the integration of biotechnology and epigenomics to enhance breeding strategies. By highlighting the role of epigenetic control in augmenting crop yield and adaptation, we underscores its potential to address the challenges posed by a growing global population as well as changing climate.

Relationship between personal anxiety and genes associated with eating disorders in women aged 45-64

Aim. To study the possible relationship between personal anxiety and polymorphic variants of genes associated with eating disorders (rs17782313 MC4R, rs1800497 DRD2, rs9939609 FTO) in women aged 45-64 in Novosibirsk.Material and methods. A random representative sample of women aged 45-64 years (n=1074, mean age, 54,27±0,2 years) was examined in 2003-2005 at the Research Institute of Internal and Preventive Medicine, a branch of the Institute of Cytology and Genetics, within the Health, Alcohol and Psychosocial Factors In Eastern Europe (HAPIEE) project. Personal anxiety was assessed using the Spielberger self-assessment questionnaire included in the protocol of the Multinational Monitoring of Trends and Determinants of Cardiovascular Disease — Optional Psychosocial Study (MONICA-MOPSY), tested at screenings of the World Health Organization (WHO) MONICA program in 1983-1995. The sample for the HAPIEE program was formed at the program data processing center in Prague for each of the collaborating centers in such a way that each respondent was random. From the sample, every second woman (n=537) was selected for genotyping of the FTO rs9939609 variant (n=384); every third woman (n=358) — for genotyping the MC4R rs17782313 (n=279) and DRD2 rs1800497 variants (n=327). Genotyping was performed in the laboratory of molecular genetic studies by the polymerase chain reaction with the analysis of restriction fragment length polymorphism.Results. Among women aged 45-64, anxiety was detected in 58,3%, and in 15,9% of women the anxiety level was high. The homozygous genotype C/C rs17782313 of the MC4R gene was more common among women with high anxiety levels (17,5%) than among women with low and moderate anxiety levels (1,8 and 0,8%, respectively; p=0,001). There were no significant differences in the detection rate of the rs1800497 genotypes of the DRD2 gene among women with different levels of anxiety (p>0,05). The frequency of the A/A rs9939609 genotype of the FTO gene was highest among women with high anxiety levels — 29,5%, compared to participants with low and moderate anxiety levels (15 and 15,3%, respectively; p=0,048). The probability of anxiety among carriers of the C/C+C/T genotypes of the MC4R gene was 1,29 times higher than among carriers of the T/T genotype (p=0,001). Among carriers of the A/A rs9939609 genotype of the FTO gene, the anxiety probability was 2,34 times higher than among carriers of the A/T+T/T genotypes (p=0,008).Conclusion. The association between anxiety and genes of eating disorders dictates the need for diagnosis and subsequent treatment of anxiety and its associated consequences.

The current state of the problem of intestinal microbiota according to pediatricians

The mechanisms of formation of the intestinal microbiota, its influence on the health of the child, participation in physiological and pathological processes are considered. Microorganisms enter the body of the fetus in utero, then the newborn child receives the microflora from the mother during childbirth. The results of molecular genetic studies indicate that the process of microbial colonization of a child is determined by the characteristics of nutrition. Of great importance in the formation of normal microflora belongs to breastfeeding. The gut microbiota interacts with various parts of the body, influencing the pathogenesis of many local and systemic diseases. The most important mechanisms for the formation of diseases in children depending on anomalies in the structure of the microbiome are considered. Understanding the processes of formation of intestinal microflora allows us to develop effective methods for the prevention and correction of microecological and motor disorders in the age aspect.

Impact of the tumor microenvironment of breast cancer on prognosis and treatment

According to world Health Organization, breast cancer (BC) ranks first among cancer diseases in women in many developed countries of the world and in the Russian Federation. Over the past 20 years, the incidence of breast cancer in the world has increased and continues to increase. This phenomenon dictates the need for a more in-depth molecular biological, genetic and immunological study of the mechanisms of development and progression of this heterogeneous malignant tumor.Recently, there has been increasing interest in the world not on lyin the direct causes of tumor development, but also in factors contributing to its progression, such as the cellular microenvironment of the tumor, the composition of which has a great influence on cancer development, treatment and prognosis. In the cellular microenvironment of the tumor, mononuclear cells are assessed, the proportion of which determines the severity and direction of the immuneresponse. Their importance for choosing the priority type of drug therapy and assessing its effectiveness is shown. The article provide scurrent data on subpopulations of T cells (CD8+, CD4+), B cells (CD20+), and natural killer. Their role in the development and progression of breast cancer is discussed depending on their phenotype. Modern research pays attention to a minor subpopulation of T lymphocytes – TCR-Vδ1+ cells. This subpopulation is represented predominantly in tumor tissue and has an immunosuppressive effect on T-effectors. At the present stage, inflammatory cells – macrophages and neutrophils – are of no less interest. Their role in tumor progression is widely debated. It is known that the differentiation of macrophages into M1 or M2 phenotypes is determined by the tumor microenvironment. The predominance of macrophages with protumor activity promotes tumor progression and cancer metastasis. Additionally, macrophages can stimulate the migration of neutrophils, which, in turn, support the metastasis of breast cancer through the production of matrix metalloproteinases. Matrix metalloproteinase 9 has been reported to promote the formation of vascular endothelial growth factor, which explains the protumor properties of neutrophils. In the context of growing tumor immunotherapy, assessment of tumor microenvironmental factors is promising both in relation to monitoring the effectiveness of breast cancer therapy and in relation to the search for potential therapeutic targets. The review systematizes and summarizes information on this issue to date.

483P Comprehensive investigation of neuromuscular manifestations in Triple-A syndrome: A combined clinical, molecular genetic and proteomic study

483P Comprehensive investigation of neuromuscular manifestations in Triple-A syndrome: A combined clinical, molecular genetic and proteomic study

Changes in the cytotoxic and regulatory functions of NK cells in patients with long-COVID under the influence of the human herpesvirus 6 (pilot study).

Long-COVID are often accompanied by the development of autoimmun disorders. Such dysregulation of the immune system can be caused by reactivation of "sluggish" herpesvirus infection in patients after COVID-19. The one of the possible causes of autoimmunization is a change in the cytotoxic functions of NK cells under the influence of HHV6. The aim of research was to study the expression of receptor-ligand Fas-FasL, regulating marker CD38 and inhibitory receptor TIM-3 on NK cells in patients with long-COVID after mild, moderate, and severe stage of COVID-19 in the anamnesis with or without reactivation of HHV-6 and to identify risk factors for the formation of autoimmune disorders in these patients. This study investigated 124 adults (73 female and 51 male) aged 18 to 65years with long-COVID. The groups of patients with long-COVID were divided depending on mild, moderate, and severe forms of COVID-19 in the anamnesis and with/without reactivation of HHV-6. The control group included 20 healthy participants. Molecular genetic studies (PCR) were performed for all patients to detect the existence of DNA HHV6. Multiparametric flow cytometry was performed on 124 EDTA peripheral blood samples collected from long-COVID patients and 20 healthy controls. There was defined an imbalance between acute antiviral mechanisms, the response contributing to tissue damage and immunopathology, probably autoimmunity in patients with long-COVID after different forms of COVID-19 with reactivation of HHV-6. The presence of HHV-6 in groups with long-COVID was accompanied by higher expression of FasL and CD38, especially in patients, who had a severe form of COVID-19 in the anamnesis. The decrease in TIM-3 in patients with reactivation of HHV-6 compared to patients without HHV-6 puts the preservation of immunological tolerance at risk of Th1-dependent immune responses. The reactivation of HHV-6 is accompanied by higher expression of FasL and CD38, which indicates increased hyperactivation of NK cells, their cytotoxic activity, and subsequent exhaustion. NK cells of these patients lose their immunoregulatory ability, this creates prerequisites for the development of immunopathology, probably autoimmune processes.

Immunotherapy in the treatment of urological tumors

The relevance of immunotherapy in treatment of tumors of the genitourinary system is increasing every year, which is due to the emerging data of molecular genetic studies, changes in classifications and a large number of ongoing clinical studies.

Genotoxic Stress is a Trigger of Endothelial Dysfunction in Wistar Rats: Results of a Molecular Genetic Study

Genotoxic Stress is a Trigger of Endothelial Dysfunction in Wistar Rats: Results of a Molecular Genetic Study

Study of the role of polymorphic variants G919A and A2039G of the follicle stimulating hormone receptor gene FSHR in the genesis of male infertility

Aim. To determine the distribution of genotypes of polymorphic variants G919A and A2039G of the gene FSHR (follicle-stimulating hormone receptor) among men with azoospermia. Methods. DNA from peripheral blood leukocytes was isolated and purification using a modified salting out method. Extracted DNA was amplified by Polymerase chain reaction (PCR). The PCR products were subsequently digested with the restriction enzyme for identify polymorphic variants of the follicle-stimulating hormone receptor gene FSHR. Electrophoresis of PCR products was performed in a 2 % agarose gel. Results. Given that idiopathic infertility is overwhelmingly caused by genetic factors, it seemed necessary to conduct a set of cytological and molecular genetic studies in a group of men with azoospermia. The genetic component was verified in 28 men with azoospermia, which is 40 % of all subjects. Molecular genetic studies were performed and the distribution of genotypes of polymorphic variants A919G and A2039G of the FSHR gene among men with azoospermia was determined. Conclusions. A slightly higher frequency of homozygous genotypes GG of polymorphic variants A919G and A2039G of the follicle stimulating hormone receptor gene FSHR was found among men with azoospermia compared to the group of fertile men.

Evaluation of Lysosphingolipid Analysis for the Diagnosis of Lysosomal Storage Disease.

Lysosomal storage disorders (LSD) are a group of inherited inborn metabolism errors that are characterized by a deficiency in the lysosomal enzyme. In patients with suspected lipid storage disorders, confirmation of the diagnosis relies predominantly on the measurement of specific enzymatic activities and molecular genetic studies. New approaches to the measurement of lysosphingolipids have been developed that may serve as a rapid first-tier screening tests for the evaluation of lysosomal storage disorders. The present study evaluates the results of lysosphingolipid screening tests in patients with suspected lysosomal storage diseases. Lysosphingolipid elevation was detected in five patients examined with suspected lysosomal storage disease, and a definitive diagnosis was reached based on genetic analysis. Our data support recent evidence of the primary role of LysoSLs in the diagnosis of sphingolipidosis, and suggest that these biomarkers may be used for diagnosis and treatment monitoring in the future.

Features of diagnostics and therapy of familial Mediterranean fever

The purpose of this work is to attempt to provide an overview of current recommendations for the diagnosis and treatment of familial Mediterranean fever, as well as to present our own clinical observation of this pathology. A selective analysis of the literature over the past 5 years (2020-2024) was carried out in the scientometric databases PubMed (https://pubmed.ncbi.nlm.nih.gov) and the Russian Science Citation Index (www.elibrary.ru). Current data on the autoinflammatory disease familial Mediterranean fever are reviewed. It is important to understand the fact that this pathological condition can be combined with a wide range of autoimmune diseases. The lack of therapy is dangerous for the development of serious complications (systemic amyloidosis). Attention is drawn to the use of colchicine, as well as in the case of colchicine resistance and insufficient effectiveness of colchicine – IL-1 inhibitors. We present our own clinical observation of this disease with an emphasis on the features of the course and stages of therapy for this pathology. A young man, Armenian, was treated for 3 years due to acute conditions with an increase in body temperature to febrile levels, severe abdominal pain and moderate arthralgia. The conditions were accompanied by leukocytosis and increased CRP, but no signs of acute surgical disease were detected. After a molecular genetic study, the diagnosis of familial Mediterranean fever was verified. Colchicine was prescribed, which helped stop many manifestations of the disease; she has been taking it regularly for 5 years. Currently, episodes of exacerbations have become significantly less frequent, laboratory markers of acute inflammation have normalized, but the use of colchicine in the maximum daily dose causes abdominal discomfort. Rare episodes of exacerbations during treatment suggest insufficient effectiveness of this drug. An option to achieve results in such a situation is to use a class of genetically engineered biological drugs such as IL-1 inhibitors. Familial Mediterranean fever is a rare pathological condition, but doctors of various clinical specialties should be wary of its detection. Achieving treatment success requires constant monitoring of the patient’s condition, prescribing therapy with colchicine or IL-1 inhibitors from the moment of diagnosis.