A glucokinase gene mutation in a young boy with diabetes mellitus, hyperinsulinemia, and insulin resistance.

We report the case of a 12-year-old boy with a glucokinase () mutation, and diabetes with hyperinsulinemia and insulin resistance. For 4 years, the patient intermittently received insulin medications Actrapid HM and Protaphane HM (total dose 5 U/day), with glycated hemoglobin (HbA) levels of 6.6%-7.

[Nozological Heterogeneity, Molecular Genetics and Immunology of Autoimmune Diabetes Mellitus].

Article is devoted to the review of literature data, and also the analysis of results of own researches concerning genetics, molecular genetics and immunological violations at various forms of the autoimmune diabetes (DM) including classical T1DM, LADA type and an autoimmune polyglandular syndrome of 1 type (APS1). In case of T1DM more than 80% of patients are carriers of one or two strongest predisposing haplotypes: DRB1*04-DQA1*0301-DQB1*0302 and DRB1*03-DQA1*0501-DQB1*0201 designated as DQ2 and DQ8. HLA genes can model a clinical features of disease.

Studying progression from glucose intolerance to type 2 diabetes in obese children.

Aim: Identification of metabolic and genetic factors capable to mediate progression from normal glucose tolerance (NGT) through impaired glucose tolerance (IGT) to type 2 diabetes (T2D) in childhood obesity.

Patients And Methods: Three groups of obese children with NGT (n=54), IGT (n=35), and T2D (n=62) were evaluated. A control group of non-obese normal children (n=210) was also studied.

[Molecular genetics and clinical aspects of monogenic diabetes mellitus].

The paper is dedicated to clinical and laboratory aspects of Diabetes Mellitus non-immune forms, such as neonatal Diabetes Mellitus, Maturity Onset Diabetes of young (MODY), DIDMOAD-syndrome, Wolframe syndrome, Alstrom syndrome and its determinating genes. The analysis of proper clinical results are present in this paper.

[Immunogenetics of type 1 diabetes mellitus--from fundamental ideas to medical practice].

The review of studies of Russian researchers on theoretical and practical aspects of genetic predisposition to type 1 diabetes associated with immunity: HLA and not HLA genes. Most important for practical public health outcomes are evidence that HLA-genetic predisposition to type 1 diabetes is associated with the DRB1-genotype, consisting entirely of variants DRB1-genes associated with the development of T1D. It was also established that CTLA4 gene has an independent predictive value for T1D.

[Association of the polymorphisms of the ERBB3 and SH2B3 genes with type 1 diabetes].

To study the association with diabetes mellitus type 1 we performed analysis of the distribution of frequencies of alleles and genotypes of polymorphic marker rs2292239 of ERBB3 gene, encoding epidermal growth factor receptor type 3 and polymorphic marker rs3184504 of SH2B3 gene, encoding adaptor protein LNK. The study included groups of T1DM patients and unrelated controls of Russian origin. Genotyping was performed using methods of RFLP and real-time amplification.

The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients.

Objective: Lymphocyte adaptor protein (LNK) plays a pivotal role as a suppressor of T-cell receptor-mediated immune signaling and negative regulator of lymphopoiesis and early hematopoiesis. Recently, association between the R262W (c.784T>C) variant of the SH2B3 gene (rs3184504) encoding human LNK and type 1 diabetes (T1D) was found in several populations.

[Association of the C1858T polymorphism of the PTPN22 gene with type 1 diabetes].

To study the association with diabetes mellitus type 1 (T1DM) we performed TDT analysis and analysis of the distribution of frequencies of alleles and genotypes of polymorphic marker C1858T of the PTPN22 gene, encoding tyrosine phosphatase of non-receptor type (LYP). Groups of concordant (27 families) and discordant (62 families) sibpairs and groups of T1DM patients and unrelated controls of Russian origin were recruited in Endocrinology Research Center, Moscow and Center of Diabetes, Samara. For a given polymorphic marker was not found statistically significant associations with type 1 diabetes in the transmission disequilibrium test, while analysis of the distribution of frequencies of alleles and genotypes showed the association with T1DM.

[Association of the T(-365)C POLG1, G(-25)A ANT1 and G(-605)T PEO1 gene polymorphisms with diabetic polyneuropathy in patients with type 1 diabetes mellitus].

The aim of this study was the search of association of polymorphic markers T(-365)C of POLG1 gene, G(-25)A of ANT1 gene and G(-605)T of PEO1 gene with diabetic polyneuropathy (DPN) in type 1 diabetes mellitus (T1DM) patients. All patients were ethnic Russians from Moscow, with a T1DM record of no more than 5 years and DPN or a T1DM record of more than 10 years but without DPN. We have found that polymorphic marker T(-365)C of POLG1 gene was associated with DPN in Russian patients with T1DM.

[The use of achievements in human molecular immunogenetics in the management of type 1 diabetes mellitus].

New original data are presented on the use of achievements in human molecular immunogenetics in the management of type 1 diabetes mellitus. They include materials allowing for the prediction of the development of the disease at the population, family, and individual levels along with novel approaches to its radical treatment by the reconstitution of the lost glucose tolerance. The reported data may find wide application in current clinical practice.

[Association of the chromosomal region 2q35 with type 1 diabetes mellitus in the Russian patients from Moscow].

To map human chromosome 2 region associated with type 1 diabetes mellitus, 89 families with concordant and discordant sib pairs were analyzed. Linkage and association with type 1 diabetes were examined using polymorphic microsatellite markers spanning the region of about 4 Mb. The linkage plot was constructed, and association of the five microsatellite markers within the chromosomal region 2q35 was examined.

Identification of glycosaminoglycan-binding sites within hepatitis C virus envelope glycoprotein E2*.

Heparan sulphate is one of the candidate receptors for hepatitis C virus (HCV). Envelope glycoproteins of HCV have been proposed to be responsible for recognition and binding with cell receptors. They are characterized by great genetic polymorphism.

The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients.

Type 1 diabetes (T1D) is a multifactorial autoimmune disease, with strong genetic component. Several susceptibility loci contribute to genetic predisposition to T1D. One of these loci have been mapped to chromosome 1q42 in UK and US joined affected family data sets but needs to be replicated in other populations.

Lack of association between genetic markers on chromosome 16q22-Q24 and type 1 diabetes in Russian affected families.

Aim: To evaluate whether the T1D susceptibility locus on chromosome 16q contributes to the genetic susceptibility to T1D in Russian patients.

Method: Thirteen microsatellite markers, spanning a 47-centimorgan genomic region on 16q22-q24 were evaluated for linkage to T1D in 98 Russian multiplex families. Multipoint logarithm of odds (LOD) ratio (MLS) and nonparametric LOD (NPL) values were computed for each marker, using GENEHUNTER 2.

Evaluation of IDDM8 susceptibility locus in a Russian simplex family data set.

Type 1 diabetes (T1D) susceptibility locus, IDDM8, has been accurately mapped to 200 kilobases at the terminal end of chromosome 6q27. This is within the region which harbours a cluster of three genes encoding proteasome subunit beta 1 (PMSB1), TATA-box binding protein (TBP) and a homologue of mouse programming cell death activator 2 (PDCD2). In this study, we evaluated whether these genes contribute to T1D susceptibility using the transmission disequilibrium test of the data set from 114 affected Russian simplex families.

Evidence for a type 1 diabetes susceptibility locus (IDDM10) on chromosome 10p11-q11 in a Russian population.

Around 20 susceptibility loci for type 1 diabetes mellitus (T1DM) have been mapped. One of these loci, IDDM10, was found on chromosome 10p11-q11. Here, we investigated whether the IDDM10 locus contributes in the susceptibility to T1DM in a Russian family dataset.

A new type 1 diabetes susceptibility locus containing the catalase gene (chromosome 11p13) in a Russian population.

Background: Oxidative stress is involved in the origin of type 1 diabetes. Low efficiency of the scavenging antioxidant system has been shown to be related to the pathogenesis of the disease. This, therefore suggests that genes encoding catalase and other antioxidant enzymes may implicate in the development of type 1 diabetes.

[The antioxidant status of the seeds in populations of the great plantain (Plantago major L.) growing in an area exposed to the Balakovo Atomic Electric Power Station and to chemical enterprises].

The results of the determination of radionuclide and chemical (multielement analysis) soil pollution are presented. The data on antioxidant status of plantain (Plantago major L.) in conjunction with the data on radionuclide and chemical pollution are analyzed.

[Limited mobility of the joints: A complication of diabetes mellitus in children and adolescents].

The incidence of a specific complication, limited mobility of the joints (mainly of interphalangeal joints of the hand), was estimated in 108 patients aged 6 to 22 with insulin-dependent diabetes of 5 and more years duration. It was found to be high: 44%. This complication more frequently develops in cases of poor metabolic control and longer disease duration.

[Analysis of nuclear families with two or more patients with insulin-dependent diabetes mellitus with diabetic siblings].

HLA haplotype distribution was analyzed in nuclear families of patients with insulin-dependent diabetes mellitus. Sixteen families with two or more diabetic siblings were examined, a total of 69 subjects, 33 of these diabetic siblings and 36 normal subjects (siblings and parents). The data were processed using the involved sibling pairs method based on a mixed model making use of a conditional probability approach.

Frequency analysis of HLA-DQA1 and HLA-DQB1 gene alleles and susceptibility to type 1 diabetes mellitus in Russian patients.

The HLA-DQA1 and DQB1 genes have recently been recognized to be strong genetic markers of susceptibility to type 1 (insulin-dependent) diabetes mellitus. The Arg52 DQA1 and non-Asp57 DQB1 alleles of these genes correlate with the disease predisposition and the Asp57 DQB1 and non-Arg52 DQA1 alleles with disease protection. We investigated 113 patients with type 1 diabetes and 121 healthy subjects from the Russian population of Moscow using DNA amplification and dot-blot hybridization with sequence-specific oligonucleotides (SSO).

[Constitutional and dermatoglyphic characteristics of children with diabetes mellitus].

A group of Russian children with clinically diagnosed diabetes mellitus were examined using a comprehensive constitutional dermatoglyphic program. Pattern asymmetry was observed in children of both sexes. On the whole the examined population was characterized by reduced incidence of loop patterns and increased incidence of double-delta patterns.

[Diabetes mellitus incidence and its prevalence in Moscow].

Epidemiologic survey of two diabetes mellitus types in Moscow has shown that the incidence of type I diabetes markedly increases from birth (0.012-0.013%) to the age of 10-14 (0.