Consilium Medicum

Sarcopenia is associated with progressive generalized skeletal muscle weakness, persistent decline in muscle strength, function, and quality of life in the elderly population. The presence of sarcopenia worsens the prognosis of older patients. In this regard, the study of the etiology and pathogenesis of sarcopenia, the identification of early markers for the diagnosis of this disease are relevant areas today. Myokines are secreted by skeletal muscle and play a important role in the regulation of muscle mass and function, metabolic homeostasis. Myokine synthesis disruption may contribute to the development of sarcopenia. In addition, we can see the polymorphism association of various genes with the development of the disease. This review brings together current knowledge about myokines and genetic factors as potential biomarkers for the early diagnosis of sarcopenia.

Background. One of the most important gene polymorphisms that may be responsible for the development of insulin resistance is the rs9939609 of the FTO gene.

Aim. To investigate the association of the rs9939609 polymorphism of the FTO gene in patients with type 2 diabetes (T2D) in the Yakut and Tatar populations.

Materials and methods. The study involved patients with T2D from the population of the Yakut nationality of the Republic of Sakha (Yakutia), Yakutsk (n=132) and the Tatar population – residents of the Republic of Tatarstan (n=134). Molecular genetic analysis was carried out on in the central research laboratory of the Department of molecular genetics (Kazan State Medical University) and in the laboratory of hereditary pathology of the Department of Molecular Genetics (Yakut Science Center of Complex Medical Problems). Statistical data processing was carried out using GraphPad InStat, Microsoft Excel 2007 programs.

Results. The frequency of the AA genotype of the rs9939609 polymorphism of the FTO gene in the group of T2D in the Tatar population differed from the own control sample: 30.1% vs 14.1%; p=0.00000006, as well as from the European control group from the 1000GENOME database: 30.1% vs 19.9%; p=0.0006. The frequency of the risk allele in T2D group in the Yakut population was statistically significantly higher than in the East Asian control group from the 1000GENOME database (27.7% vs 16.9%; p=0.00007), in the own healthy control group no significant differences were found.

Conclusion. The more the Asian component in the genome of the population, the less it is predisposed to obesity and T2D. The rs9939609 polymorphism of the FTO gene is associated with the risk of T2D in the Tatar population; no association in the Yakut population was found.

Background. Forms of glucose metabolism disorders are one of the key processes in the course of cystic fibrosis (CF) and can be variable, starting with impaired glucose tolerance (IGT) and ending with cystic fibrosis-related diabetes (CFRD), which is the most dangerous complication, worsening the prognosis and outcome of disease. Decreased lung function and poor nutritional status are the leading causes of morbidity and mortality in patients with carbohydrate metabolism disorders (CMD).

Materials and methods. The study included 85 children with CF. Patients underwent measurement of anthropometric parameters (height, weight) to assess nutritional status (NS), and spirometry test was used to assess pulmonary function (PF). Of these, 78 patients were assessed with an oral glucose tolerance test (OGTT) at 5 points (0 minutes, 30 minutes, 60 minutes, 90 minutes, 120 minutes) assessing the concentration of venous plasma glucose in mmol/l. The results of the OGTT were assessed in accordance with the diagnostic criteria for CFRD.

Results. According to the Kruskal–Wallis test, the maximum volumetric flow rate during exhalation of 75% FVC (FEF 75) differed between different forms of carbohydrate metabolism (p=0.031). Other indicators of respiratory function didn’t have any significant differences. Using the Mann–Whitney test, pairwise comparisons were performed, so the FEF 75 indicator was statistically significantly lower in the group of children with CFRD than in other groups. There were no statistically significant differences when assessing Z-scores weight/age (WAZ) and height/age (HAZ) depending on the forms of carbohydrate metabolism. However, BMI/age Z-scores (BAZ) were statistically significantly lower in groups of children with CFRD than in other forms of carbohydrate metabolism.

Conclusion. Children with CF in the period of prediabetes don’t have significant impairments in lung function and NS. These disorders are typical for children with CFRD.

Diabetes mellitus has now assumed an epidemic character and acquired the characteristics of a pandemic disease. In recent decades, special attention has been paid to the importance of the intestinal microbiome in the pathogenesis of diabetes. The purpose of the review was to study the correlation between the intestinal microbiota and type 2 diabetes mellitus (DM 2), to assess the prospects for the prevention and treatment of DM 2 by correcting dysbiotic disorders. Studies of the intestinal microbiota have shown a correlation between plasma glucose levels and changes in the composition of the microbiota, namely with a decrease in representatives of the Firmicutes type and an increase in Proteobacteria, a change in the ratio of Bacteroidetes to Firmicutes. In patients with DM 2, the population of butyrate-producing bacteria decreases against the background of the growth of opportunistic opportunists, mucin-decomposing bacteria and sulfite-reducing bacteria. The presence of a link between the composition of intestinal microbiota and DM 2 was confirmed during experimental studies on animal models and on groups of volunteers. New approaches to studying the risk of developing DM 2 and dysbiotic disorders may be associated with the use of artificial intelligence. A promising direction for the use of probiotic microorganisms for the correction of metabolic disorders of DM 2 is the use of both classical probiotics – representatives of the genera Lactobacillus and Bifidobacterium, as well as new probiotics from the intestinal normobiota Akkermansia muciniphila, Faecalibacterium prausnitzii and genetically modified microorganisms Lactococcus lactis (LL-pUBGLP-1). One of the new techniques for correcting dysbiotic disorders in DM 2 is fecal microbiota transplantation. The intestinal microbiota can be used not only as a diagnostic biomarker of DM 2, but also as a potential target for the development of new therapeutic approaches. The use of prebiotics, probiotics, postbiotics and pharmacobiotics, which can have a therapeutic effect by influencing the pathogenetic mechanisms in DM 2, requires further multicenter studies using multiomic technologies.

Recent decades have been marked by a rapid increase in the number of patients suffering from diabetes. The development and progression of complications of the disease have the greatest impact on the life prognosis of patients with diabetes mellitus. One of the common complications of diabetes mellitus is diabetic polyneuropathy. According to expert estimates, diabetic polyneuropathy develops in 50% of patients with diabetes mellitus and in 10–30% of patients in a prediabetic state. In domestic clinical recommendations and algorithms, the treatment of diabetic polyneuropathy is considered only in terms of drugs used to treat the painful form of diabetic polyneuropathy. In the recommendations of international experts, pathogenetically oriented pharmacotherapy (alpha-lipoic acid and benfotiamine) occupies an important place. As part of the review, we examined the use of B vitamins for the treatment of diabetic polyneuropathy. We searched for relevant sources in the PubMed and Scopus information databases, including the time period up to 12.04.2024. Experience with the use of B vitamins shows that their maximum effectiveness is achieved when they are used in combination, which is due to the complementary effect of each individual vitamin. The use of a combination of vitamins B₁, B₆ and B₁₂ for diabetic polyneuropathy normalizes reflex reactions, helps eliminate sensitivity disorders, increases the speed of conduction along nerve fibers, and has a moderate analgesic effect.