scholarly journals Clinical, hormonal and molecular-genetic characteristics of monogenic diabetes mellitus associated with the mutations in the INS gene

2022 ◽  
Vol 24 (5) ◽  
pp. 414-421
Author(s):  
Yu. V. Tikhonovich ◽  
E. E. Petryaykina ◽  
A. V. Timofeev ◽  
N. A. Zubkova ◽  
A. A. Kolodkina ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Russian Federation ◽  
Clinical Characteristics ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Gene Mutations ◽  
Insulin Biosynthesis ◽  
Coding Region ◽  
Genetic Characteristics ◽  
First Time

Background: Currently more than 50 mutations of the INS gene are known to affect the various stages of insulin biosynthesis in the beta cells of the pancreas. However only individual cases of diabetes mellitus (DM) associated with heterozygous mutations in the coding region of the INS gene were reported in Russian Federation. We report a group of patients with a clinical manifestation of DM caused by mutations in both coding and non-coding regions of the INS gene. The patients with a mutation in the intron of the INS gene are reported for the first time in Russian FederationMaterials and methods: 60 patients with an isolated course of neonatal DM (NDM), 52 patients with a manifestation of DM at the age of 7–12 months and the absence of the main autoimmune markers of type 1 DM, 650 patients with the MODY phenotype were included in the study. NGS technology was used for molecular genetic research. Author’s panel of primers (Custom DNA Panel) was used for multiplex PCR and sequencing using Ion Ampliseq™ technology. The author’s panel “­Diabetes Mellitus” included 28 genes (13 candidate genes of MODY and other genes associated with DM).Results: 13 heterozygous mutations were identified in 16 probands and 9 relatives. The majority of mutations were detected in patients with PNDM (18.75%) and in patients with an onset of DM at the age of 7–12 months (9.6%). Mutations in the INS gene were detected in 2 patients (0.3%) in the group with the MODY phenotype. Mutations in the INS gene were not detected in patients with transient NDM (TNDM). Analysis of clinical data in patients with PND and onset of diabetes at the age of 7–12 months did not show significant differences in the course of the disease. The clinical characteristics of the cases of MODY10 and diabetes caused by a mutation in the intron of the INS gene are reported in details.Conclusion: The role of INS gene mutations in NDM, MODY, and DM with an onset at the age of 7–12 months was analyzed in a large group of patients. The clinical characteristics of DM due to a mutation in the intron of the INS gene are reported for the first time in the Russian Federation.

scholarly journals Association of polymorphic loci of susceptibility to diabetes mellitus type 2 in various ethnic groups of the Russian Federation

2021 ◽  
Vol 24 (3) ◽  
pp. 262-272
Author(s):  
D. S. Avzaletdinova ◽  
T. V. Morugova ◽  
L. F. Sharipova ◽  
O. V. Kochetova
Keyword(s):  
Diabetes Mellitus ◽  
Ethnic Groups ◽  
Russian Federation ◽  
Molecular Genetic ◽  
Polymorphic Markers ◽  
Case Control Studies ◽  
Genetic Mechanisms ◽  
The Russian Federation ◽  
First Time

The multifactorial nature of type 2 diabetes mellitus (T2D) was confirmed by numerous researches. The first investigations devoted to molecular-genetic mechanisms of T2D were carried out on the basis of linkage disequilibrium (LD) studying and later the candidate genes of T2D have begun investigated. We have analyzed the literature data including the case-control studies in populations of Russia. There were revealed 33 genes and 65 polymorphic markers in the analyzed works. The analysis of association of T2D in the ethnic groups of Russian Federation was carried out on following genes: ABCC8, ADIPOQ, ADIPOR1, ADIPOR2, C2CD4A/C2CD4A, CDKAL1, ­CDKN2A/2B, CCL11, CCL20, CCL5, CYBA, FABP2, FTO, GCLC, GPX2, GSTP1, GSTT1, HHEX/IDE, IGF2BP2, IRS1, KCNJ11, KCNQ1, LPL, LRP5, MC4R, PPARG, SLC2A2, SLC30A8, SLC30A8, TCF7L2, TMEM18, WFS1, ZFAND6. The major of studies are replicative, i.e. repeating previous investigations of foreign authors, and were performed on Russian, Tatar and Yakut populations. At the same time not all the loci of genetic susceptibility have demonstrated the association with T2D in the population of Russia. In this work the systematic review of studies of molecular-genetic markers of T2D in the ethnic groups of Russian Federation was made for the first time.

scholarly journals The biology of Simulium noelleri and Simulium dolini: morphological, ecological and molecular data

2021 ◽  
Vol 29 (2) ◽  
pp. 180-184
Author(s):  
M. O. Zinchenko ◽  
K. B. Sukhomlin ◽  
O. P. Zinchenko ◽  
V. S. Tepliuk
Keyword(s):  
Genetic Difference ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Morphological Characteristics ◽  
Taxonomic Status ◽  
Molecular Data ◽  
Species Group ◽  
Small Rivers ◽  
Genetic Characteristics ◽  
First Time

Molecular genetic research has revolutionized the taxonomy and systematics of the Simuliidae family. Simulium noelleri Friederichs, 1920 is a species of blackfly, common in the Holarctic, reported for 33 countries. In 1954, Topchiev recorded it in Ukraine for the first time. Simulium dolini Usova et Sukhomlin, 1989 has been recorded at the borders of Ukraine and Belarus. It was described for the first time by Usova and Sukhomlin in 1989 from the collection from the territory of Volyn region in 1985. Usova and Sukhomlin, Yankovsky, Adler state that S. noelleri and S. dolini are different species by the morphological characteristics that differ in all phases of development. Adults differ in the structure of the genital appendages, palps, the margin and shape of the face and forehead, the colour of the legs; the larva – in the pattern on the frontal capsule, the number of rays in the fans, mandibular teeth and the hypostoma, the structure of the hind organ of attachment; pupae – in the branching way of gills. Molecular data are becoming an increasingly important tool in insect taxonomy. Therefore, we had to check that these two closely related species also have genetic difference. The development of S. noelleri and S. dolini was studied in four small rivers of Volyn region, Ukraine (Chornohuzka, Konopelka, Putylivka, Omelyanivka) in the period from 2017 to 2019. During initial processing of insect samples, we used the standard protocols EPPO PM7/129. We obtained the nucleotide sequence of S. dolini. It was proved that the populations of S. noelleri and S. dolini from medium and small rivers of Volyn differ in biological, morphological, behavioural and genetic characteristics. Comparison of the species S. noelleri with the data of the GenBank confirms the identification of three distinct morphotypes from Volyn, Great Britain and Canada. As a result of the conducted researches, it was confirmed that two close species of S. dolini and S. noelleri from the noelleri species group differ in the structure of mitochondrial DNA, which confirms their independent taxonomic status. Additional studies comprising more individuals from larger areas of Europe are required to verify the taxonomic position of these two species.

Genotype-based personalized correction of glycemic control in patients with MODY due to mutations in GCK, HNF1A AND HNF4A genes

2017 ◽  
Vol 1 (1) ◽  
pp. 40-48 ◽  
Author(s):  
Natalia A. Zubkova ◽  
Olesya A. Gioeva ◽  
Yulia V. Tikhonovich ◽  
Vasily M. Petrov ◽  
Evgeny V. Vasiliev ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Next Generation Sequencing ◽  
Glycemic Control ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Current Therapy ◽  
Targeted Next Generation Sequencing ◽  
Monogenic Form ◽  
Treatment Of Diabetes ◽  
Generation Sequencing

Aims. To demonstrate the principles of personalized treatment of diabetes for example the most common MODY subtypes (1-3) identified by NGS Methods. We study 312 patients aged from 3 months to 25 years (162 boy/150 girls) with suspected MODY. A targeted next-generation sequencing approach (IonTorrent platform) was used for sequencing of monogenic form of diabetes mellitus candidate 28genes (13 MODY genes-candidates and other genes, associated with diabetes mellitus). Clinical and biochemicalphenotypes of the patients were compared with the type of mutations. Previously undescribed nonsynonymous mutations were considered as «probably pathogenic» with the minor allele frequency of <0.1% and «pathogenic» assessment in ANNOVAR database. Results. We selected group of patients with mutations in the most common genes-candidates (GCK; HNF1A; HNF4A):99GCK gene mutations detectedin the 129 probands (61,1%) and 77 relatives, in HNF1A – 20 mutations in the 19 probands(9,0%) and 14 relatives, in HNF4A – 8 mutations in 9the probands (4,3%) and 3 relatives. The current therapy wasmodificated account the genotype and have been evaluated its effectiveness. Conclusion. Molecular genetic confirmation of the monogenic nature of metabolic carbohydratedisorders is the basis of personalized therapy of diabetes.

scholarly journals Molecular genetic characteristics of Atlantic sturgeon (Acipenser oxyrinchus) cultured in Poland: Report on a bilateral project

2020 ◽  
Vol 28 (4) ◽  
pp. 238-245
Author(s):  
Aliaksandr Slukvin ◽  
Nina Balashenko ◽  
Marina Sasinovich ◽  
Vladimir Kostousov ◽  
Andrzej Kapusta
Keyword(s):  
Interspecific Hybrids ◽  
Molecular Genetic ◽  
Specific Region ◽  
Atlantic Sturgeon ◽  
Coding Region ◽  
Genetic Characteristics ◽  
Canadian Population ◽  
D Loop ◽  
Species Specific ◽  
Acipenser Oxyrinchus

Abstract Using 8 microsatellite markers (Spl-106, Spl-101, ATR-113, Aox23, An20, AoxD161, AoxD165, AfuG41) and mtDNA species-specific region flanked by the tRNAThr coding region and D-loop, it was found that Atlantic sturgeon stocking material planned for transport from Poland to Belarus belonged to the species Acipenser oxyrinchus oxyrinchus Mitchill. No interspecific hybrids were found. All of the Atlantic sturgeon individuals examined as part of this study belonged to a Canadian population.

Within-patient Genetic Diversity of blaKPC Harboring K. pneumoniae Isolates in a Colombian High Complexity Hospital. Identification of a New Tn3-based NTEKPC-IIe Mobilization Platform.

2021 ◽  
Author(s):  
Deisy Abril ◽  
Erika Vergara ◽  
Diana Palacios ◽  
Aura Lucía Leal ◽  
Ricaurte Alejandro Marquez-Ortiz ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Klebsiella Pneumoniae ◽  
Genome Analysis ◽  
Complete Genome Sequence ◽  
Clinical Characteristics ◽  
Clinical Impact ◽  
High Complexity ◽  
Genetic Characteristics ◽  
First Time

Abstract Resistance to carbapenems in Klebsiella pneumoniae has been mostly related with the worldwide dissemination of KPC, largely due to the pandemic clones belonging to the complex clonal (CC) 258. To unravel blaKPC post-endemic clinical impact, here we describe clinical characteristics of 68 patients from a high complexity hospital, and the molecular and genetic characteristics of their 139 blaKPC - K. pneumoniae (KPC-Kp) isolates. Of the 26 patients that presented relapses or reinfections, 16 had changes in the resistance profiles of the isolates recovered from the recurrent episodes. In respect to the genetic diversity of KPC-Kp isolates, PFGE revealed 45 different clonal complexes (CC). MLST for 12 representative clones showed ST258 was present in the most frequent CC (23.0%), however, remaining 11 representative clones belonged to non-CC258 STs (77.0%). Interestingly, 16 patients presented within-patient genetic diversity of KPC-Kp clones. In one of these, three unrelated KPC-Kp clones (ST258, ST504, and ST846) and a blaKPC - K. variicola isolate (ST182) were identified. For this patient, complete genome sequence of one representative isolate of each clone was determined. In K. pneumoniae isolates blaKPC was mobilized by two Tn3-like unrelated platforms: Tn4401b (ST258) and Tn6454 (ST504 and ST846), a new NTEKPC-IIe transposon for first time characterized also determined in the K. variicola isolate of this study. Genome analysis showed these transposons were harbored in different unrelated but previously reported plasmids and in the chromosome of a K. pneumoniae (for Tn4401b). In conclusion, in the blaKPC post-endemic dissemination in Colombia, different KPC-Kp clones (mostly non-CC258) have emerged due to integration of the single blaKPC gene in new genetic platforms. This work also shows the intra-patient resistant and genetic diversity of KPC-Kp isolates. This circulation dynamic could impact the effectiveness of long-term treatments.

scholarly journals Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhuhui Ge ◽  
Jianhua Mao ◽  
Huijun Shen ◽  
Yu Xu ◽  
Haidong Fu ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Genetic Testing ◽  
Missense Mutation ◽  
Neurogenic Bladder ◽  
Nocturnal Enuresis ◽  
Clinical Characteristics ◽  
Coding Region ◽  
Genetic Characteristics ◽  
Cord Injury ◽  
Mps Iva

Abstract Background Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder. Up to now, reports on the clinical characteristics of MPS IVA mainly focused on patients with progressive bone dysplasia and multiple organ damage, while the effects of this disorder on neurogenic bladder have not been reported. Therefore, the aim of the present study is to report two cases of nocturnal enuresis finally diagnosed as neurogenic bladder in MPS IVA. Case presentation Both children were characterized by the presence of pectus carinatum, kyphoscoliosis, nocturnal enuresis, urinary incontinence, normal intelligence, and loss of strength in the legs, diagnosed as neurogenic bladder in association with MPS IVA through the analysis of the clinical characteristics, enzyme activity and genetic testing. In addition, the terminator codon mutation c.1567T > G (p.X523E) and a novel missense mutation c.575A > G (p.E192G) were found in the coding region of the GALNS gene of the 1st patient, while the missense mutation c.488C > A (p.P163H) was found in the coding region of the GALNS gene of the 2nd patient. Conclusions Neurogenic bladder may occur in patients with MPS IVA after spinal cord injury. It is necessary to screen for the diagnosis of MPS IVA in patients with atypical enuresis and skeletal abnormalities through the analysis of the clinical characteristics, enzyme activity and genetic testing.

scholarly journals COMPREHENSIVE STUDY OF DISABILITY DUE TO DIABETES MELLITUS IN THE RUSSIAN FEDERATION

2018 ◽  
Vol 21 (1-2) ◽  
pp. 55-59
Author(s):  
Larisa N. Chikinova ◽  
I. V Begma ◽  
N. S Zapariy ◽  
Zh. V Boltenko
Keyword(s):  
Diabetes Mellitus ◽  
Russian Federation ◽  
People With Disabilities ◽  
Group Iii ◽  
The Russian Federation ◽  
Comprehensive Programs ◽  
Prevention Of Diabetes ◽  
First Time ◽  
Comprehensive Study

When analyzing the indices and the structure of the disability due to diabetes mellitus over the period of 2012-2016, a decrease in the number of diabetes mellitus patients both recognized as disabled for the first time (RDFT) and recognized as disabled repeatedly (RDR), reduction in the level of the primary and secondary disability due to diabetes mellitus, a predominance of group III invalids in the structure of the contingent of RDFT and RDR, but more than a third were invalids of the I and II disability groups, which determines the need for the development of comprehensive programs for the prevention of diabetes mellitus, rehabilitation of patients and people with disabilities with this pathology.

THE rs2200733 POLYMORPHISM ON CHROMOSOME 4q25 AFFECTS THE EFFICIENCY OF PULMONALY VEIN ISOLATION IN PATIENTS IN ATRIAL FIBRILLATION

2020 ◽  
pp. 119-126
Author(s):  
Aksyutina N.V. ◽  
Shulman V.A. ◽  
Aldanova E.E. ◽  
Kusaev V.V.
Keyword(s):  
Atrial Fibrillation ◽  
Molecular Genetic ◽  
Pulmonary Veins ◽  
Genetic Research ◽  
Early Recurrence ◽  
Russian Population ◽  
Relapse Free Survival ◽  
Free Survival ◽  
Number Of Patients ◽  
First Time

Atrial fibrillation (AF) is one of the most common cardiac arrhythmias, accounting for 1-2% in the general population. Currently, such a method of surgical treatment of AF as catheter ablation of the orifices of the pulmonary veins (CA PVV) is widely used. In the foreign literature in recent years, the results of single studies have appeared, which showed a clear association between the rs2200733 polymorphism and the occurrence of AF relapses after CA PVV. Such studies have not been conducted on the Russian population. Purpose of the study: to determine the relationship between the rs2200733 polymorphism of chromosome 4q25 and the efficiency of CA PVV in AF. A total of 113 patients with primary AF and 134 with secondary AF were examined. Control - 182 healthy people. A subgroup of 67 people was formed, with the conducted CA PVV from patients with primary AF. Conducted: ECG, EchoCG, Holter ECG monitoring, VEM, CAG, molecular genetic research. Among patients with recurrent AF after CA PVV, the TT genotype was detected statistically significantly more often than in patients without recurrence (20.00% relative to 0.00%, p<0.05), while if there is a genotype with the T allele, the risk of AF recurrence increased 3.6 times (OR 3.636; CI 95% 1.324-9.991). The median relapse-free survival (which represents the time during which AF relapse occurs in 50% of patients) is 12.00 ± 0.66 months in the presence of the CT genotype (95% CI 10.70-13.30), 11.00 ± 2.99 months in patients with the TT genotype (95% CI 5.14-16.86). The median relapse-free survival was not determined in patients with the CС genotype, since the number of patients without signs of relapse of the disease was more than 50% by the end of the observation period. In this study, for the first time in the Russian population, it has been shown that the TT genotype and the T allele of the rs2200733 polymorphism are predictors of early recurrence of AF after CA PVV.

scholarly journals MOLECULAR GENETIC TESTING IN DIAGNOSTICS OF LUNG CANCER AND OVARIAN CARCINOMA WITH THE USAGE OF CYTOLOGICAL SPECIMENS

2017 ◽  
Vol 22 (4) ◽  
pp. 214-218
Author(s):  
Olga G. Grigoruk ◽  
E. I Pupkova ◽  
L. M Bazulina ◽  
A. F Lazarev
Keyword(s):  
Ovarian Carcinoma ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Brca1 Gene ◽  
Pulmonary Adenocarcinoma ◽  
Serous Carcinoma ◽  
Low Grade ◽  
Genetic Characteristics ◽  
Egfr Gene ◽  
Serous Ovarian Carcinoma

This article presents results of the introduction in practical oncology of molecular genetic investigations performed with the use of tumor DNA cells taken from the cytological specimens. There was investigated the molecular genetic characteristics of cytological specimens from 126 patients. In 80 cases with the proved diagnosis of pulmonary adenocarcinoma (n = 80) EGFR gene mutations were noted in 11.7% cases. KRAS, BRAF and BRCA1/2 gene mutations were determined in 46 women suffering from serous ovarian carcinoma. KRAS gene mutations in cells of ovarian low-grade serous carcinoma were determined in 62.5% of patients, BRAF- in 12.5% cases. BRCA1 gene mutations have been determined in 14.3% cases from the ovarian high-grade serous carcinoma group. In conditions of the presence of the sufficient amount of tumor cells the cytological material is the fully-featured material for molecular genetic investigations. The investigation both of EGFR gene mutations in pulmonary adenocarcinoma cases and KRAS, BRAF, BRCA1/2 gene mutations with serous ovarian carcinoma are mandatory in the appointment of targeted therapy.

Molecular-genetic verification and treatment of neonatal diabetes mellitus related to the defects in ATP-dependent potassium channels: Results of the observation of 9 patients and the first description of ABCC8 gene mutations in Russia

2011 ◽  
Vol 57 (2) ◽  
pp. 3-8
Author(s):  
I I Dedov ◽  
Iu V Tikhonovich ◽  
Elena E Petriaikina ◽  
I G Rybkina ◽  
I É Volkov ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Pancreatic Beta Cells ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Molecular Genetic Analysis ◽  
Neonatal Diabetes Mellitus ◽  
Molecular Genetic Study ◽  
Abcc8 Gene ◽  
Sound Therapy

Introduction of the methods for molecular-genetic analysis into clinical practice has opened up new prospects for both diagnosis and pathogenetically sound therapy of neonatal diabetes mellitus. It is currently known that the overwhelming majority of the cases of diabetes mellitus developing in children during the first six month of life are associated with defects of the genes controlling formation, development, and functional activity of pancreatic beta-cells whereas type 1 diabetes mellitus of autoimmune origin accounts for less than 1% of this pathology. This paper reports the results of a molecular-genetic study of 14 patients presenting with neonatal diabetes mellitus. Nine cases are shown to have developed as a result of mutations in KCNJ11 and ABCC8 genes. ABCC8 mutations are described for the first time in Russia. Analysis of clinical forms of neonatal diabetes mellitus revealed correlation between the type of mutations, clinical features of the disease, and susceptibility of the patients to sulfonylurea drugs.

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