14 research outputs found
Transferability of the PRS estimates for height and BMI obtained from the European ethnic groups to the Western Russian populations
Genetic data plays an increasingly important role in modern medicine. Decrease in the cost of sequencing with subsequent increase in imputation accuracy, and the accumulation of large amounts of high-quality genetic data enable the creation of polygenic risk scores (PRSs) to perform genotypeβphenotype associations. The accuracy of phenotype prediction primarily depends on the overall trait heritability, Genome-wide association studies cohort size, and the similarity of genetic background between the base and the target cohort. Here we utilized 8,664 high coverage genomic samples collected across Russia by βEvogenβ, a Russian biomedical company, to evaluate the predictive power of PRSs based on summary statistics established on cohorts of European ancestry for basic phenotypic traits, namely height and BMI. We have demonstrated that the PRSs calculated for selected traits in three distinct Russian populations, recapitulate the predictive power from the original studies. This is evidence that GWAS summary statistics calculated on cohorts of European ancestry are transferable onto at least some ethnic groups in Russia
ΠΡΠΎΠ±Π΅Π½Π½ΠΎΡΡΠΈ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠΈ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΡ ΠΎΠΏΡΡ ΠΎΠ»Π΅Π²ΡΡ ΡΠΈΠ½Π΄ΡΠΎΠΌΠΎΠ² Ρ Π½Π΅ΡΠΈΠΏΠΈΡΠ½ΡΠΌ ΠΏΡΠΎΡΠ²Π»Π΅Π½ΠΈΠ΅ΠΌ: ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΡΠ»ΡΡΠ°ΠΈ
Background: Germinal pathogenic variants are the cause of the development of hereditary cancer syndromes (HCS). Various genetic tests are used for HCS detect, from the Β«frequentΒ» mutations of one or several genes analysis to the full-length gene sequence, next-generation sequencing (NGS) based panel, whole exome (WES) or whole genome sequencing (WGS).There are some HCS cases with atypical clinical manifestations and the family history does not allow one to suspect a specific HCS and limit oneself to the study of only one or a few genes. Conducting research using NGS to assess the selected sample of cancer patientβs genetic characteristics has revealed atypical HCS cases.Aim: To present the WGS diagnosis results for two atypical hereditary tumor syndromes cases.Materials and methods: DNA isolation was performed using Qiagen DNA Isolation kit.WGS for all samples was performed at DNBSEQ-T7 (MGI) and DNBSEQ-G400 (MGI) sequencing platforms using PCR-free protocol with average sample coverage 30x. A standard bioinformatics analysis pipeline was implemented for all the samples data processing.Potential clinically relevant variants were validated using Sanger sequencing. For all patients was received signed a written consent.Results: In the first case report, a pathogenic variant in the TP53 gene was identified: c. 637Cβ>βT, p. Arg213Ter, rs397516436, and LiβββFraumeni syndrome was confirmed. In the second case, we detected two pathogenic variants carrier β BRCA2: c. 6644_6647del, p. Tyr2215SerfsTer13, rs80359616 and MSH2: c. 1906Gβ>βC, p. Ala636Pro, rs63750875 associated with hereditary breast and ovarian cancer and hereditary colorectal cancer (Lynch syndrome).Conclusion: NGS, including WGS makes it easier to identify all clinically significant germline variants associated with hereditary cancer syndromes in cancer patients, as well as to trace their segregation in relatives.ΠΠΊΡΡΠ°Π»ΡΠ½ΠΎΡΡΡ: ΠΠ΅ΡΠΌΠΈΠ½Π°Π»ΡΠ½ΡΠ΅ ΠΏΠ°ΡΠΎΠ³Π΅Π½Π½ΡΠ΅ Π²Π°ΡΠΈΠ°Π½ΡΡ ΡΠ²Π»ΡΡΡΡΡ ΠΏΡΠΈΡΠΈΠ½ΠΎΠΉ ΡΠ°Π·Π²ΠΈΡΠΈΡ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΡ
ΠΎΠΏΡΡ
ΠΎΠ»Π΅Π²ΡΡ
ΡΠΈΠ½Π΄ΡΠΎΠΌΠΎΠ² (ΠΠΠ‘). ΠΠ»Ρ Π²ΡΡΠ²Π»Π΅Π½ΠΈΡ ΠΠΠ‘ ΠΏΡΠΈΠΌΠ΅Π½ΡΡΡΡΡ ΡΠ°Π·Π»ΠΈΡΠ½ΡΠ΅ ΠΏΠΎΠ΄Ρ
ΠΎΠ΄Ρ, ΠΎΡ Π°Π½Π°Π»ΠΈΠ·Π° Β«ΡΠ°ΡΡΡΡ
Β» ΠΌΡΡΠ°ΡΠΈΠΉ ΠΎΠ΄Π½ΠΎΠ³ΠΎ ΠΈΠ»ΠΈ Π½Π΅ΡΠΊΠΎΠ»ΡΠΊΠΈΡ
Π³Π΅Π½ΠΎΠ² Π΄ΠΎ ΠΏΠΎΠ»Π½ΠΎΠ³ΠΎ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ ΠΊΠ°Π½Π΄ΠΈΠ΄Π°ΡΠ½ΠΎΠ³ΠΎ Π³Π΅Π½Π°, ΠΌΡΠ»ΡΡΠΈΠ³Π΅Π½Π½ΠΎΠΉ ΠΏΠ°Π½Π΅Π»ΠΈ, ΠΏΠΎΠ»Π½ΠΎΡΠΊΠ·ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΠΈΠ»ΠΈ ΠΏΠΎΠ»Π½ΠΎΠ³Π΅Π½ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ. ΠΠ½ΠΎΠ³Π΄Π° Π²ΡΡΡΠ΅ΡΠ°ΡΡΡΡ ΡΠ»ΡΡΠ°ΠΈ Ρ Π½Π΅ΡΠΈΠΏΠΈΡΠ½ΡΠΌ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠΌ ΠΏΡΠΎΡΠ²Π»Π΅Π½ΠΈΠ΅ΠΌ, Π° ΡΠ΅ΠΌΠ΅ΠΉΠ½ΡΠΉ Π°Π½Π°ΠΌΠ½Π΅Π· Π½Π΅ ΠΏΠΎΠ·Π²ΠΎΠ»ΡΠ΅Ρ ΡΠ²ΠΎΠ΅Π²ΡΠ΅ΠΌΠ΅Π½Π½ΠΎ Π·Π°ΠΏΠΎΠ΄ΠΎΠ·ΡΠΈΡΡ ΠΊΠΎΠ½ΠΊΡΠ΅ΡΠ½ΡΠΉ ΠΠΠ‘ Ρ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠ° ΠΈ ΠΎΠ³ΡΠ°Π½ΠΈΡΠΈΡΡΡΡ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠ΅ΠΌ ΠΎΠ΄Π½ΠΎΠ³ΠΎ ΠΈΠ»ΠΈ Π½Π΅ΡΠΊΠΎΠ»ΡΠΊΠΈΡ
Π³Π΅Π½ΠΎΠ². ΠΠ°ΡΡΠ½ΡΠ΅ ΠΏΡΠΎΠ΅ΠΊΡΡ Ρ ΠΏΡΠΈΠΌΠ΅Π½Π΅Π½ΠΈΠ΅ΠΌ Π²ΡΡΠΎΠΊΠΎΠΏΡΠΎΠΈΠ·Π²ΠΎΠ΄ΠΈΡΠ΅Π»ΡΠ½ΠΎΠ³ΠΎ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ Π΄Π»Ρ ΠΎΡΠ΅Π½ΠΊΠΈ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΎΡΠΎΠ±Π΅Π½Π½ΠΎΡΡΠ΅ΠΉ ΠΎΠΏΡΠ΅Π΄Π΅Π»Π΅Π½Π½ΠΎΠΉ Π²ΡΠ±ΠΎΡΠΊΠΈ ΠΎΠ½ΠΊΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² ΠΏΠΎΠ·Π²ΠΎΠ»ΠΈΠ»ΠΈ Π²ΡΡΠ²ΠΈΡΡ Π½Π΅ΡΠΈΠΏΠΈΡΠ½ΡΠ΅ ΡΠ»ΡΡΠ°ΠΈ ΠΠΠ‘.Π¦Π΅Π»Ρ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ: ΠΡΠ΅Π΄ΡΡΠ°Π²ΠΈΡΡ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠ΅ ΠΎΠΏΠΈΡΠ°Π½ΠΈΠ΅ ΠΈ ΡΠ΅Π·ΡΠ»ΡΡΠ°ΡΡ ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠΉ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠΈ Π΄Π²ΡΡ
Π½Π΅ΡΠΈΠΏΠΈΡΠ½ΡΡ
ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ
ΡΠ»ΡΡΠ°Π΅Π² ΠΠΠ‘.ΠΠ°ΡΠ΅ΡΠΈΠ°Π»Ρ ΠΈ ΠΌΠ΅ΡΠΎΠ΄Ρ: ΠΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½Ρ ΡΠ΅Π·ΡΠ»ΡΡΠ°ΡΡ ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΠΎΠΉ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠΈ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΏΡΠΈΡΠΈΠ½, ΠΏΡΠΈΠ²ΠΎΠ΄ΡΡΠΈΡ
ΠΊ ΡΠ°Π·Π²ΠΈΡΠΈΡ ΠΠΠ‘, Π½Π° ΠΏΡΠΈΠΌΠ΅ΡΠ΅ Π΄Π²ΡΡ
ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ
ΡΠ»ΡΡΠ°Π΅Π². ΠΠΎΠ»Π½ΠΎΠ³Π΅Π½ΠΎΠΌΠ½ΠΎΠ΅ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ ΠΏΡΠΎΠ²Π΅Π΄Π΅Π½ΠΎ Ρ ΠΈΡΠΏΠΎΠ»ΡΠ·ΠΎΠ²Π°Π½ΠΈΠ΅ΠΌ ΡΠ΅Π°Π³Π΅Π½ΡΠΎΠ² ΠΈ ΠΎΠ±ΠΎΡΡΠ΄ΠΎΠ²Π°Π½ΠΈΡ ΠΏΡΠΎΠΈΠ·Π²ΠΎΠ΄ΡΡΠ²Π° MGI (ΠΠΈΡΠ°ΠΉ). ΠΠ°Π»ΠΈΠ΄Π°ΡΠΈΡ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈ Π·Π½Π°ΡΠΈΠΌΡΡ
Π²Π°ΡΠΈΠ°Π½ΡΠΎΠ², ΠΏΠΎΠ»ΡΡΠ΅Π½Π½ΡΡ
ΠΏΠΎ ΡΠ΅Π·ΡΠ»ΡΡΠ°ΡΠ°ΠΌ ΠΏΠΎΠ»Π½ΠΎΠ³Π΅Π½ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ, ΠΏΡΠΎΠ²Π΅Π΄Π΅Π½Π° ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ΠΌ ΠΏΠΎ Π‘ΡΠ½Π³Π΅ΡΡ.Π Π΅Π·ΡΠ»ΡΡΠ°ΡΡ: Π ΠΏΠ΅ΡΠ²ΠΎΠΌ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΌ ΡΠ»ΡΡΠ°Π΅ Π²ΡΡΠ²Π»Π΅Π½ ΠΏΠ°ΡΠΎΠ³Π΅Π½Π½ΡΠΉ Π²Π°ΡΠΈΠ°Π½Ρ Π² Π³Π΅Π½Π΅ TP53: c. 637C > T, p. Arg213Ter, rs397516436, ΠΈ ΠΏΠΎΠ΄ΡΠ²Π΅ΡΠΆΠ΄Π΅Π½ ΡΠΈΠ½Π΄ΡΠΎΠΌ ΠΠΈ β Π€ΡΠ°ΡΠΌΠ΅Π½ΠΈ. ΠΠΎ Π²ΡΠΎΡΠΎΠΌ ΡΠ»ΡΡΠ°Π΅ Ρ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠ° Π²ΡΡΠ²Π»Π΅Π½ΠΎ Π½ΠΎΡΠΈΡΠ΅Π»ΡΡΡΠ²ΠΎ Π΄Π²ΡΡ
ΠΏΠ°ΡΠΎΠ³Π΅Π½Π½ΡΡ
Π²Π°ΡΠΈΠ°Π½ΡΠΎΠ² β BRCA2: c. 6644_6647del, p. Tyr2215SerfsTer13, rs80359616 ΠΈ MSH2: c. 1906G > C, p. Ala636Pro, rs63750875, Π°ΡΡΠΎΡΠΈΠΈΡΠΎΠ²Π°Π½Π½ΡΡ
Ρ ΡΠ°Π·Π²ΠΈΡΠΈΠ΅ΠΌ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΠΎΠ³ΠΎ ΡΠ°ΠΊΠ° ΠΌΠΎΠ»ΠΎΡΠ½ΠΎΠΉ ΠΆΠ΅Π»Π΅Π·Ρ ΠΈ ΡΠΈΡΠ½ΠΈΠΊΠ° ΠΈ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΠΎΠ³ΠΎ ΠΊΠΎΠ»ΠΎΡΠ΅ΠΊΡΠ°Π»ΡΠ½ΠΎΠ³ΠΎ ΡΠ°ΠΊΠ° (ΡΠΈΠ½Π΄ΡΠΎΠΌ ΠΠΈΠ½ΡΠ°).ΠΠ°ΠΊΠ»ΡΡΠ΅Π½ΠΈΠ΅: ΠΡΠΏΠΎΠ»ΡΠ·ΠΎΠ²Π°Π½ΠΈΠ΅ ΡΠ°ΡΡΠΈΡΠ΅Π½Π½ΡΡ
ΠΌΠ΅ΡΠΎΠ΄ΠΎΠ² Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΡΠ΅ΡΡΠΈΡΠΎΠ²Π°Π½ΠΈΡ, Π² ΡΠΎΠΌ ΡΠΈΡΠ»Π΅ ΠΏΠΎΠ»Π½ΠΎΠ³Π΅Π½ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ ΠΏΠΎΠ·Π²ΠΎΠ»ΡΠ΅Ρ Π²ΡΡΠ²ΠΈΡΡ Π²ΡΠ΅ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈ Π·Π½Π°ΡΠΈΠΌΡΠ΅ Π³Π΅ΡΠΌΠΈΠ½Π°Π»ΡΠ½ΡΠ΅ Π²Π°ΡΠΈΠ°Π½ΡΡ, Π°ΡΡΠΎΡΠΈΠΈΡΠΎΠ²Π°Π½Π½ΡΠ΅ Ρ ΠΠΠ‘, Ρ ΠΎΠ½ΠΊΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ², Π° ΡΠ°ΠΊΠΆΠ΅ ΠΏΡΠΎΡΠ»Π΅Π΄ΠΈΡΡ ΠΈΡ
ΡΠ΅Π³ΡΠ΅Π³Π°ΡΠΈΡ Ρ ΡΠΎΠ΄ΡΡΠ²Π΅Π½Π½ΠΈΠΊΠΎΠ²
Human gut microbiota community structures in urban and rural populations in Russia
The microbial community of the human gut has a crucial role in sustaining host homeostasis. High-throughput DNA sequencing has delineated the structural and functional configurations of gut metagenomes in world populations. The microbiota of the Russian population is of particular interest to researchers, because Russia encompasses a uniquely wide range of environmental conditions and ethnogeographical cohorts. Here we conduct a shotgun metagenomic analysis of gut microbiota samples from 96 healthy Russian adult subjects, which reveals novel microbial community structures. The communities from several rural regions display similarities within each region and are dominated by the bacterial taxa associated with the healthy gut. Functional analysis shows that the metabolic pathways exhibiting differential abundance in the novel types are primarily associated with the trade-off between the Bacteroidetes and Firmicutes phyla. The specific signatures of the Russian gut microbiota are likely linked to the host diet, cultural habits and socioeconomic status. Β© 2013 Macmillan Publishers Limited. All rights reserved
ΠΠ»ΠΎΠΊΠ°ΡΠ΅ΡΡΠ²Π΅Π½Π½ΠΎΠ΅ Π½ΠΎΠ²ΠΎΠΎΠ±ΡΠ°Π·ΠΎΠ²Π°Π½ΠΈΠ΅ ΠΌΠΎΠ»ΠΎΡΠ½ΠΎΠΉ ΠΆΠ΅Π»Π΅Π·Ρ Π² ΡΠΎΡΡΠ°Π²Π΅ ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° ΠΠΎΡΠ΄Π΅Π½Π°
Cowden syndrome is a rare disease characterized by multiple hamartomas and increased breast, thyroid, kidney and uterine neoplasm risk. The lifetime breast cancer risk for patients with Cowden syndrome is 85β%, with an average age of diagnosis between 38 and 46 years. The diagnostic criteria for Cowden syndrome have been established by the International Cowden Consortium (ICC) and the National Comprehensive Cancer Network (NCCN), and are regularly revised, but the diagnosis of Cowden syndrome remains difficult due to the variety of phenotypic and clinical features of the disease. At the same time, the genetic variants associated with Cowden syndrome analysis is not a standard for patients with breast cancer.Objective: To demonstrate the nonβBRCA hereditary breast cancer detection using whole genome sequencing on the Cowden syndrome clinical case example.Materials and methods: The article describes a clinical case of a 37βyearβold female patient with breast cancer, normal intelligence and phenotype, structural abnormalities of the thyroid gland (multinodular goiter). Whole genome sequencing was used to identify clinically significant genetic variants associated with hereditary tumor syndromes.Clinical case: The article presents a brief literature review on the clinical presentation of Cowden syndrome and indications for its molecular diagnosis. Also, the presented clinical case describes patient R., 37 years old female with breast cancer, who underwent treatment in the City Clinical Oncological Hospital ββ1 of the Moscow City Health Department in 2021. The patient was fully examined and enrolled in the whole genome sequencing project under the Order β 69 of Moscow Healthcare Department dated February 1, 2021 Β«Oncogenetic research organization in MoscowΒ». The results revealed a pathogenic variant in the PTEN gene, previously associated with Cowden syndrome.Conclusion: The use of whole genome sequencing allows to identify hereditary tumor syndromes, the clinical manifestation of which may be breast cancer.Π‘ΠΈΠ½Π΄ΡΠΎΠΌ ΠΠΎΡΠ΄Π΅Π½Π° Ρ
Π°ΡΠ°ΠΊΡΠ΅ΡΠΈΠ·ΡΠ΅ΡΡΡ Π½Π°Π»ΠΈΡΠΈΠ΅ΠΌ ΠΌΠ½ΠΎΠΆΠ΅ΡΡΠ²Π΅Π½Π½ΡΡ
Π³Π°ΠΌΠ°ΡΡΠΎΠΌ Ρ Π²ΡΡΠΎΠΊΠΈΠΌ ΡΠΈΡΠΊΠΎΠΌ ΡΠ°Π·Π²ΠΈΡΠΈΡ Π΄ΠΎΠ±ΡΠΎΠΊΠ°ΡΠ΅ΡΡΠ²Π΅Π½Π½ΡΡ
ΠΈ Π·Π»ΠΎΠΊΠ°ΡΠ΅ΡΡΠ²Π΅Π½Π½ΡΡ
ΠΎΠΏΡΡ
ΠΎΠ»Π΅ΠΉ ΡΠΈΡΠΎΠ²ΠΈΠ΄Π½ΠΎΠΉ ΠΆΠ΅Π»Π΅Π·Ρ, ΠΌΠΎΠ»ΠΎΡΠ½ΠΎΠΉ ΠΆΠ΅Π»Π΅Π·Ρ, ΠΏΠΎΡΠ΅ΠΊ ΠΈ ΡΠ½Π΄ΠΎΠΌΠ΅ΡΡΠΈΡ. Π ΠΈΡΠΊ ΡΠ°Π·Π²ΠΈΡΠΈΡ ΡΠ°ΠΊΠ° ΠΌΠΎΠ»ΠΎΡΠ½ΠΎΠΉ ΠΆΠ΅Π»Π΅Π·Ρ Ρ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ ΡΠΈΠ½Π΄ΡΠΎΠΌΠΎΠΌ ΠΠΎΡΠ΄Π΅Π½Π° Π² ΡΠ΅ΡΠ΅Π½ΠΈΠ΅ ΠΆΠΈΠ·Π½ΠΈ ΡΠΎΡΡΠ°Π²Π»ΡΠ΅Ρ 85 %, ΠΏΡΠΈ ΡΡΠΎΠΌ ΡΡΠ΅Π΄Π½ΠΈΠΉ Π²ΠΎΠ·ΡΠ°ΡΡ ΠΏΠΎΡΡΠ°Π½ΠΎΠ²ΠΊΠΈ Π΄ΠΈΠ°Π³Π½ΠΎΠ·Π° ΡΠΎΡΡΠ°Π²Π»ΡΠ΅Ρ ΠΎΡ 38 Π΄ΠΎ 46 Π»Π΅Ρ. ΠΠΈΠ°Π³Π½ΠΎΡΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΠΊΡΠΈΡΠ΅ΡΠΈΠΈ ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° ΠΠΎΡΠ΄Π΅Π½Π° ΡΡΡΠ°Π½ΠΎΠ²Π»Π΅Π½Ρ ΠΠ΅ΠΆΠ΄ΡΠ½Π°ΡΠΎΠ΄Π½ΡΠΌ ΠΊΠΎΠ½ΡΠΎΡΡΠΈΡΠΌΠΎΠΌ ΠΏΠΎ ΡΠΈΠ½Π΄ΡΠΎΠΌΡ ΠΠΎΡΠ΄Π΅Π½Π° (ICC) ΠΈ ΠΠΌΠ΅ΡΠΈΠΊΠ°Π½ΡΠΊΠΎΠΉ Π°ΡΡΠΎΡΠΈΠ°ΡΠΈΠ΅ΠΉ ΠΎΠ½ΠΊΠΎΠ»ΠΎΠ³ΠΎΠ² (NCCN) ΠΈ ΠΏΠΎΠ΄Π²Π΅ΡΠ³Π°ΡΡΡΡ ΡΠ΅Π³ΡΠ»ΡΡΠ½ΠΎΠΌΡ ΠΏΠ΅ΡΠ΅ΡΠΌΠΎΡΡΡ, ΠΎΠ΄Π½Π°ΠΊΠΎ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠ° ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° ΠΠΎΡΠ΄Π΅Π½Π° ΠΏΠΎβΠΏΡΠ΅ΠΆΠ½Π΅ΠΌΡ Π·Π°ΡΡΡΠ΄Π½Π΅Π½Π° Π²Π²ΠΈΠ΄Ρ ΡΠ°Π·Π½ΠΎΠΎΠ±ΡΠ°Π·ΠΈΡ ΡΠ΅Π½ΠΎΡΠΈΠΏΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΎΡΠΎΠ±Π΅Π½Π½ΠΎΡΡΠ΅ΠΉ ΠΈ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΏΡΠΈΠ·Π½Π°ΠΊΠΎΠ² Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠΉ. Π ΡΠΎ ΠΆΠ΅ Π²ΡΠ΅ΠΌΡ, Π°Π½Π°Π»ΠΈΠ· Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΡ
Π²Π°ΡΠΈΠ°Π½ΡΠΎΠ², Π°ΡΡΠΎΡΠΈΠΈΡΠΎΠ²Π°Π½Π½ΡΡ
Ρ ΡΠΈΠ½Π΄ΡΠΎΠΌΠΎΠΌ ΠΠΎΡΠ΄Π΅Π½Π°, Π½Π΅ ΡΠ²Π»ΡΠ΅ΡΡΡ ΡΡΠ°Π½Π΄Π°ΡΡΠΎΠΌ ΠΎΠ±ΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ ΠΏΡΠΈ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠ΅ ΡΠ°ΠΊΠ° ΠΌΠΎΠ»ΠΎΡΠ½ΠΎΠΉ ΠΆΠ΅Π»Π΅Π·Ρ.Π¦Π΅Π»Ρ: ΠΏΡΠΎΠ΄Π΅ΠΌΠΎΠ½ΡΡΡΠΈΡΠΎΠ²Π°ΡΡ Π²ΡΡΠ²Π»Π΅Π½ΠΈΠ΅ ΠΌΠ΅ΡΠΎΠ΄ΠΎΠΌ ΠΏΠΎΠ»Π½ΠΎΠ³Π΅Π½ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΡ
ΠΎΠΏΡΡ
ΠΎΠ»Π΅Π²ΡΡ
ΡΠΈΠ½Π΄ΡΠΎΠΌΠΎΠ², ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠΌ ΠΏΡΠΎΡΠ²Π»Π΅Π½ΠΈΠ΅ΠΌ ΠΊΠΎΡΠΎΡΡΡ
ΠΌΠΎΠ³ΡΡ Π±ΡΡΡ Π·Π»ΠΎΠΊΠ°ΡΠ΅ΡΡΠ²Π΅Π½Π½ΡΠ΅ Π½ΠΎΠ²ΠΎΠΎΠ±ΡΠ°Π·ΠΎΠ²Π°Π½ΠΈΡ ΠΌΠΎΠ»ΠΎΡΠ½ΠΎΠΉ ΠΆΠ΅Π»Π΅Π·Ρ, Π½Π° ΠΏΡΠΈΠΌΠ΅ΡΠ΅ ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° ΠΠΎΡΠ΄Π΅Π½Π°.ΠΠ°ΡΠ΅ΡΠΈΠ°Π»Ρ ΠΈ ΠΌΠ΅ΡΠΎΠ΄Ρ: Π² ΡΡΠ°ΡΡΠ΅ ΠΎΠΏΠΈΡΠ°Π½ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠΉ ΡΠ»ΡΡΠ°ΠΉ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΊΠΈ 37 Π»Π΅Ρ Ρ Π½ΠΎΡΠΌΠ°Π»ΡΠ½ΡΠΌ ΠΈΠ½ΡΠ΅Π»Π»Π΅ΠΊΡΠΎΠΌ ΠΈ ΡΠ΅Π½ΠΎΡΠΈΠΏΠΎΠΌ, ΡΡΡΡΠΊΡΡΡΠ½ΡΠΌΠΈ ΠΏΠΎΡΠ°ΠΆΠ΅Π½ΠΈΡΠΌΠΈ ΡΠΈΡΠΎΠ²ΠΈΠ΄Π½ΠΎΠΉ ΠΆΠ΅Π»Π΅Π·Ρ (ΠΌΠ½ΠΎΠ³ΠΎΡΠ·Π»ΠΎΠ²ΠΎΠΉ Π·ΠΎΠ±), ΠΎΠ±ΡΠ°ΡΠΈΠ²ΡΠ΅ΠΉΡΡ ΠΏΠΎ ΠΏΠΎΠ²ΠΎΠ΄Ρ ΡΠ°ΠΊΠ° ΠΌΠΎΠ»ΠΎΡΠ½ΠΎΠΉ ΠΆΠ΅Π»Π΅Π·Ρ. Π ΡΠ°ΠΌΠΊΠ°Ρ
Π½Π°ΡΡΠ½ΠΎΠ³ΠΎ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ Ρ ΡΠ΅Π»ΡΡ Π²ΡΡΠ²Π»Π΅Π½ΠΈΡ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈ Π·Π½Π°ΡΠΈΠΌΡΡ
Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΡ
Π²Π°ΡΠΈΠ°Π½ΡΠΎΠ², Π°ΡΡΠΎΡΠΈΠΈΡΠΎΠ²Π°Π½Π½ΡΡ
Ρ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΠΌΠΈ ΠΎΠΏΡΡ
ΠΎΠ»Π΅Π²ΡΠΌΠΈ ΡΠΈΠ½Π΄ΡΠΎΠΌΠ°ΠΌΠΈ, ΠΏΡΠΈΠΌΠ΅Π½Π΅Π½ ΠΌΠ΅ΡΠΎΠ΄ ΠΏΠΎΠ»Π½ΠΎΠ³Π΅Π½ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ.ΠΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠΉ ΡΠ»ΡΡΠ°ΠΉ: Π² ΡΡΠ°ΡΡΠ΅ ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½ ΠΊΡΠ°ΡΠΊΠΈΠΉ ΠΎΠ±Π·ΠΎΡ Π»ΠΈΡΠ΅ΡΠ°ΡΡΡΡ, ΠΏΠΎΡΠ²ΡΡΠ΅Π½Π½ΡΠΉ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ Ρ
Π°ΡΠ°ΠΊΡΠ΅ΡΠΈΡΡΠΈΠΊΠ΅ ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° ΠΠΎΡΠ΄Π΅Π½Π°, ΠΈ ΠΏΠΎΠΊΠ°Π·Π°Π½ΠΈΠΉ Π΄Π»Ρ ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΠΎΠΉ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠΈ. ΠΠΏΠΈΡΠ°Π½ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠΉ ΡΠ»ΡΡΠ°ΠΉ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΊΠΈ Π ., 37 Π»Π΅Ρ, ΠΊΠΎΡΠΎΡΠ°Ρ ΠΏΡΠΎΡ
ΠΎΠ΄ΠΈΠ»Π° Π»Π΅ΡΠ΅Π½ΠΈΠ΅ Π² ΠΠΠ£Π Β«ΠΠΎΡΠΎΠ΄ΡΠΊΠ°Ρ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠ°Ρ ΠΎΠ½ΠΊΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠ°Ρ Π±ΠΎΠ»ΡΠ½ΠΈΡΠ° β 1 ΠΠΠΒ» Π² 2021 Π³. ΠΏΠΎ ΠΏΠΎΠ²ΠΎΠ΄Ρ ΡΠ°ΠΊΠ° ΠΌΠΎΠ»ΠΎΡΠ½ΠΎΠΉ ΠΆΠ΅Π»Π΅Π·Ρ. Π‘ ΡΡΠ΅ΡΠΎΠΌ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΡΠΎΠ²Π°Π½Π½ΠΎΠ³ΠΎ Π² Π²ΠΎΠ·ΡΠ°ΡΡΠ΅ Π΄ΠΎ 50 Π»Π΅Ρ Π·Π»ΠΎΠΊΠ°ΡΠ΅ΡΡΠ²Π΅Π½Π½ΠΎΠ³ΠΎ Π½ΠΎΠ²ΠΎΠΎΠ±ΡΠ°Π·ΠΎΠ²Π°Π½ΠΈΡ ΠΌΠΎΠ»ΠΎΡΠ½ΠΎΠΉ ΠΆΠ΅Π»Π΅Π·Ρ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΊΠ° Π²ΠΊΠ»ΡΡΠ΅Π½Π° Π² Π½Π°ΡΡΠ½ΡΠΉ ΠΏΡΠΎΠ΅ΠΊΡ ΠΏΠΎ ΠΏΡΠΎΠ²Π΅Π΄Π΅Π½ΠΈΡ ΠΏΠΎΠ»Π½ΠΎΠ³Π΅Π½ΠΎΠΌΠ½ΡΡ
ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠΉ Π² ΡΠ°ΠΌΠΊΠ°Ρ
ΠΏΡΠΈΠΊΠ°Π·Π° ΠΠ΅ΠΏΠ°ΡΡΠ°ΠΌΠ΅Π½ΡΠ° ΠΠ΄ΡΠ°Π²ΠΎΠΎΡ
ΡΠ°Π½Π΅Π½ΠΈΡ Π³. ΠΠΎΡΠΊΠ²Ρ β 69 ΠΎΡ 01.02.2021 Β«ΠΠ± ΠΎΡΠ³Π°Π½ΠΈΠ·Π°ΡΠΈΠΈ ΠΏΡΠΎΠ²Π΅Π΄Π΅Π½ΠΈΡ ΠΎΠ½ΠΊΠΎΠ³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠΉ Π² Π³ΠΎΡΠΎΠ΄Π΅ ΠΠΎΡΠΊΠ²Π΅Β», ΠΏΠΎ ΡΠ΅Π·ΡΠ»ΡΡΠ°ΡΠ°ΠΌ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ Π²ΡΡΠ²Π»Π΅Π½ ΠΏΠ°ΡΠΎΠ³Π΅Π½Π½ΡΠΉ Π²Π°ΡΠΈΠ°Π½Ρ Π³Π΅Π½Π° PTEN, Π°ΡΡΠΎΡΠΈΠΈΡΠΎΠ²Π°Π½Π½ΡΠΉ Ρ ΡΠΈΠ½Π΄ΡΠΎΠΌΠΎΠΌ ΠΠΎΡΠ΄Π΅Π½Π°.ΠΡΠ²ΠΎΠ΄: ΠΡΠΈΠΌΠ΅Π½Π΅Π½ΠΈΠ΅ ΠΏΠΎΠ»Π½ΠΎΠ³Π΅Π½ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ ΠΏΠΎΠ·Π²ΠΎΠ»ΡΠ΅Ρ Π²ΡΡΠ²Π»ΡΡΡ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΠ΅ ΠΎΠΏΡΡ
ΠΎΠ»Π΅Π²ΡΠ΅ ΡΠΈΠ½Π΄ΡΠΎΠΌΡ, ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠΌ ΠΏΡΠΎΡΠ²Π»Π΅Π½ΠΈΠ΅ΠΌ ΠΊΠΎΡΠΎΡΡΡ
ΠΌΠΎΠ³ΡΡ Π±ΡΡΡ Π·Π»ΠΎΠΊΠ°ΡΠ΅ΡΡΠ²Π΅Π½Π½ΡΠ΅ Π½ΠΎΠ²ΠΎΠΎΠ±ΡΠ°Π·ΠΎΠ²Π°Π½ΠΈΡ ΠΌΠΎΠ»ΠΎΡΠ½ΠΎΠΉ ΠΆΠ΅Π»Π΅Π·Ρ
Genomic and phenotypic analysis of siderophore-producing Rhodococcus qingshengii strain S10 isolated from an arid weathered serpentine rock environment
Β© 2020, Springer-Verlag GmbH Germany, part of Springer Nature. The success of members of the genus Rhodococcus in colonizing arid rocky environments is owed in part to desiccation tolerance and an ability to extract iron through the secretion and uptake of siderophores. Here, we report a comprehensive genomic and taxonomic analysis of Rhodococcus qingshengii strain S10 isolated from eathered serpentine rock at the arid Khalilovsky massif, Russia. Sequence comparisons of whole genomes and of selected marker genes clearly showed strain S10 to belong to the R. qingshengii species. Four prophage sequences within the R. qingshengii S10 genome were identified, one of which encodes for a putative siderophore-interacting protein. Among the ten non-ribosomal peptides synthase (NRPS) clusters identified in the strain S10 genome, two show high homology to those responsible for siderophore synthesis. Phenotypic analyses demonstrated that R. qingshengii S10 secretes siderophores and possesses adaptive features (tolerance ofΒ up to 8% NaClΒ and pH 9) that should enable survival in its native habitat within dry serpentine rock
An allelic variant of congenital Salih myopathy
The paper describes the steps and problems of diagnosing congenital myopathy with early respiratory disorders. While differentiallyΒ diagnosing, the authors consider congenital myopathies, in which early cardiac involvement is encountered. Since the course of theΒ disease in an observed female patient differed from that of such nosological entities and appeared as not only muscle weakness, butΒ also as early respiratory disorders, we could not identify what nosological entity the disease belonged to in view of its clinical presentationΒ and the results of muscle histological examination and we decided to perform exome sequencing. Molecular genetic testing couldΒ find heterozygous mutations in the titin (TTN) gene. The findings are suggestive of congenital proximal myopathy with early respiratoryΒ failure, which is an allelic variant of Salih myopathy. This case is the first and so far only description of this disease in Russia
AicardiβGoutieres syndrome in children with idiopathic epilepsy
This article describes 9 clinical cases of AicardiβGoutiΓ¨res syndrome (AGS) in children admitted to the hospital of the Scientific and Practical Center of Medical Care for Children with Resistant Multifocal Epilepsy. Epilepsy, psychomotor retardation, and a loss of previously acquired skills were diagnosed during the investigation. Targeted exome sequencing in one child revealed a mutation in the RNASEH2B gene responsible for the development of this disease. AGS is an early-onset progressive encephalopathy with basal ganglia calcification, leukodystrophy, lymphocytosis, elevated interferon-alfa levels in the cerebrospinal fluid, and no evidence of viral infection. Noninfectious leukoencephalopathy concurrent with multifocal epilepsy in early childhood suggest that the syndrome is an inherited disease
Identification, Expression Analysis, and Target Prediction of Flax Genotroph MicroRNAs Under Normal and Nutrient Stress Conditions
Cultivated flax (Linum usitatissimum L.) is an important plant valuable for industry. Some flax lines can undergo heritable phenotypic and genotypic changes (LIS-1 insertion being the most common) in response to nutrient stress and are called plastic lines. Offspring of plastic lines, which stably inherit the changes, are called genotrophs. MicroRNAs (miRNAs) are involved in a crucial regulatory mechanism of gene expression. They have previously been assumed to take part in nutrient stress response and can, therefore, participate in genotroph formation. In the present study, we performed high-throughput sequencing of small RNAs extracted from flax plants grown under normal, phosphate deficient and nutrient excess conditions to identify miRNAs and evaluate their expression. Our analysis revealed expression of 96 conserved miRNAs from 21 families in flax. Moreover, 475 novel potential miRNAs were identified for the first time, and their targets were predicted. However, none of the identified miRNAs were transcribed from LIS-1. Expression of 7 miRNAs (miR168, miR169, miR395, miR398, miR399, miR408, and lus-miR-N1) with up- or down-regulation under nutrient stress (on the basis of high-throughput sequencing data) was evaluated on extended sampling using qPCR. Reference gene search identified ETIF3H and ETIF3E genes as most suitable for this purpose. Down-regulation of novel potential lus-miR-N1 and up-regulation of conserved miR399 were revealed under the phosphate deficient conditions. In addition, the negative correlation of expression of lus-miR-N1 and its predicted target, ubiquitin-activating enzyme E1 gene, as well as, miR399 and its predicted target, ubiquitin-conjugating enzyme E2 gene, was observed. Thus, in our study, miRNAs expressed in flax plastic lines and genotrophs were identified and their expression and expression of their targets was evaluated using high-throughput sequencing and qPCR for the first time. These data provide new insights into nutrient stress response regulation in plastic flax cultivars
Human gut microbiota community structures in urban and rural populations in Russia
The microbial community of the human gut has a crucial role in sustaining host homeostasis. High-throughput DNA sequencing has delineated the structural and functional configurations of gut metagenomes in world populations. The microbiota of the Russian population is of particular interest to researchers, because Russia encompasses a uniquely wide range of environmental conditions and ethnogeographical cohorts. Here we conduct a shotgun metagenomic analysis of gut microbiota samples from 96 healthy Russian adult subjects, which reveals novel microbial community structures. The communities from several rural regions display similarities within each region and are dominated by the bacterial taxa associated with the healthy gut. Functional analysis shows that the metabolic pathways exhibiting differential abundance in the novel types are primarily associated with the trade-off between the Bacteroidetes and Firmicutes phyla. The specific signatures of the Russian gut microbiota are likely linked to the host diet, cultural habits and socioeconomic status. Β© 2013 Macmillan Publishers Limited. All rights reserved