Molecular genetics of maturity-onset diabetes of the young

Воевода, М. И.; Иванова, А. А.; Shakhtshneider, E.; Ovsyannikova, Alla; Михайлова, С. В.; Astrakova, K S; Voevoda, S. M.; Rymar, O. D.

doi:10.17116/terarkh2016884117-124

Cited by 9 publications

(8 citation statements)

References 74 publications

(72 reference statements)

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“…Таким образом, в РФ в анализируемый период 2013-2017 гг. сохраняются рост распространенности СД и снижение регистрируемой заболеваемости; отмечаются увеличение продолжительности жизни при СД 2; снижение уровня смертности вследствие диабетических ком при СД 1 и стабильные показатели смертности от сердечно-сосудистых причин (инфаркт, инсульт, сердечно-сосудистая недостаточность) и хронической почечной недостаточности при обоих типах СД; стойкое улучшение показателей компенсации углеводного обмена [2].…”

Section: ââåäåíèåunclassified

“…Молекулярно-генетическое исследование при подозрении на MODY проводится с целью верификации диагноза и определения подтипа MODY, а также для определения врачебной тактики ведения пациента, прогнозирования исхода заболевания и его осложнений в зависимости от выявленного подтипа MODY. Поиск мутации, вызвавшей развитие MODY, также важен с точки зрения раннего выявления MODY у ближайших родственников пробанда и проведения соответствующей терапии заболевания и профилактики его осложнений [2].…”

Section: ââåäåíèåunclassified

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Association of polymorphisms of genes TCF7L2, FABP2, KCNQ1, ADIPOQ with the prognosis of the development of type 2 diabetes mellitus

Мельникова¹,

Сергеевна²,

Rymar³

et al. 2020

Terapevticheskii arkhiv

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Aim.To study the possibility of using polymorphisms of genesTCF7L2,FABP2,KCNQ1,ADIPOQas markers for predicting the development of type 2 diabetes mellitus (T2D) in the population of Novosibirsk. Materials and methods.On the basis of prospective observation of a representative population sample of residents of Novosibirsk (HAPIEE), 2 groups were formed according to the case-control principle (case people who had diabetes mellitus 2 over 10 years of observation, and control people who did not developed disorders of carbohydrate metabolism). T2D group (n=443, mean age 56.26.7 years, men 29.6%, women 70.4%), control group (n=532, mean age 56.17.1 years, men 32.7%, women 67.3%). DNA was isolated by phenol-chloroform extraction. Genotyping was performed by the method of polymerase chain reaction with subsequent analysis of restriction fragment length polymorphism, polymerase chain reaction in real time. Statistical processing was carried out using the SPSS 16.0 software package. Results and discussion.No significant effect of rs1799883 of theFABP2gene, rs2237892 of theKCNQ1gene, and rs6773957 of theADIPOQgene on the risk of developing T2D was found. Genotypes TT and TC rs7903146 of theTCF7L2gene are genotypes for the risk of developing T2D (relative risk RR 3.90, 95% confidence interval CI 2.316.61,p0.001; RR 1.86, 95% CI 1.422.43,p0.001, respectively). The CC genotype rs7903146 of theTCF7L2gene is associated with a protective effect against T2D (RR 0.37, 95% CI 0.290.49,p0.001). When theTCF7L2gene is included in the model for assessing the risk of developing T2D rs7903146, it retains its significance in both men and women. Conclusion.The rs7903146 polymorphism of theTCF7L2gene confirmed its association with the prognosis of the development of T2D, which indicates the possibility of considering it as a candidate for inclusion in a diabetes risk meter. Variants of risk meters have been developed to assess the prognosis of the development of diabetes mellitus 2 in men and women aged 4569 years during 10 years of follow-up. The association with the prognosis of the development of T2D polymorphisms rs1799883 of theFABP2gene, rs2237892 of theKCNQ1gene and rs6773957 of theADIPOQgene was not found.

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Section: ââåäåíèåunclassified

Association of polymorphisms of genes TCF7L2, FABP2, KCNQ1, ADIPOQ with the prognosis of the development of type 2 diabetes mellitus

Мельникова¹,

Сергеевна²,

Rymar³

et al. 2020

Terapevticheskii arkhiv

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“…Diagnostic criteria of MODY include hyperglycemia, usually manifesting before the age of 25 years, autosomal dominant inheritance with transmission across at least three generations, similar phenotypes of the disease among all members of a family, and the C-peptide levels staying within the reference range for years [ 1 – 4 ]. Confirmation of MODY is complicated and expensive, but enables to select the appropriate treatment and conduct genetic consulting [ 5 , 6 ]. The real prevalence of MODY is unknown.…”

Section: Introductionmentioning

confidence: 99%

ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective

et al. 2016

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Maturity-onset diabetes of the young (MODY) is a heterogeneous group of diseases associated with gene mutations leading to dysfunction of pancreatic β-cells. Thirteen identified MODY variants differ from each other by the clinical course and treatment requirement. Currently, MODY subtypes 1–5 are best-studied, descriptions of the other forms are sporadic. This article reports a MODY12 clinical case, caused by a mutation in the gene of the ATP-binding cassette transporter sub-family C member 8 (ABCC8), encoding sulfonylurea receptor 1. Diabetes manifested in a 27-year-old non-obese man with epilepsy in anamnesis. No evidence of ketosis was present, pancreatic antibodies were undetectable, and C-peptide remained within the reference range. During the initial investigation, non-proliferative diabetic retinopathy and elevated albumin excretion rate was revealed. After 4 months, diabetes was complicated by pre-proliferative retinopathy and diabetic macular edema. Recurrent hypoglycemia and an increase in body weight was observed on moderate and even small insulin doses. Taking into account the clinical features and the presence of diabetes in four generations on the maternal side, screening for all MODY subtypes was performed. A mutation in the ABCC8 gene was found in proband and in his mother. After the insulin discontinuation, gliclazide modified release combined with sodium/glucose cotransporter 2 (SGLT2) inhibitors was started. This treatment eliminated hypoglycemia and improved glycemic variability parameters. A decrease in the amplitude of glucose excursions was documented by continuous glucose monitoring. After 3 months of treatment, glycemic control was still optimal, and no hypoglycemic episodes were observed. The case report demonstrates the clinical features of ABCC8-associated MODY and the therapeutic potential of a combination of sulfonylurea with SGLT2 inhibitor in this disease.Electronic supplementary materialThe online version of this article (doi:10.1007/s13300-016-0192-9) contains supplementary material, which is available to authorized users.

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“…Diabetes mellitus (DM) with autosomal dominant inheritance, i.e., maturity-onset DM of the young (MODY), is a heterogeneous group of diseases caused by gene mutations that resulting in pancreatic β-cell dysfunction [ 1 – 4 ]. Verification of MODY allows for successful patient management, ensuring a healthy pregnancy and provision of genetic counseling to families [ 5 – 7 ]. Examination of relatives of MODY probands makes it possible to diagnose hyperglycemia in the preclinical phase.…”

Section: Introductionmentioning

confidence: 99%

A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations

et al. 2017

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Diabetes mellitus with autosomal dominant inheritance, i.e., maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. The MODY phenotype is associated with gene mutations leading to pancreatic β-cell dysfunction. Here, we present the clinical case of a 50-year-old proband with familial diabetes mellitus in five generations (proband, her mother, grandmother, great-grandfather, and son). This disease is most likely associated with the novel Ser6Arg mutation in the HNF1A gene, which was identified in four family members. The mutation was not detected in MODY patients (126 subjects), in patients with type 2 diabetes mellitus (188 subjects), and in a general population sample (564 subjects).Electronic supplementary materialThe online version of this article (10.1007/s13300-017-0350-8) contains supplementary material, which is available to authorized users.

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Molecular genetics of maturity-onset diabetes of the young

Cited by 9 publications

References 74 publications

Association of polymorphisms of genes TCF7L2, FABP2, KCNQ1, ADIPOQ with the prognosis of the development of type 2 diabetes mellitus

Association of polymorphisms of genes TCF7L2, FABP2, KCNQ1, ADIPOQ with the prognosis of the development of type 2 diabetes mellitus

ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective

A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations

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