Maturity-onset diabetes of the young (MODY) is a rare form monogeneic that classically presents as non-insulin requiring with evidence autosomal dominant inheritance in individuals who are typically and lean. However, these criteria do not capture all cases can also overlap other types diabetes. The hepatocyte nuclear factor-1 alpha (HNF1A) mutation common cause MODY highly sensitive to sulphon...

INTRODUCTION Maturity-onset diabetes of the young (MODY) is a heterogenous group of disorders characterized by an early onset of insulin-independent diabetes mellitus, an autosomal dominant mode of inheritance and a primary defect in beta-cell. There are six subtypes of MODY. MODY2 and MODY3 are the most frequent. CASE OUTLINE We present a nine-year-old boy with intermittent hyperglycaemia. A...

49 ISSN 1758-1907 10.2217/DMT.13.59 © 2014 Future Medicine Ltd Diabetes Manage. (2014) 4(1), 49–61 Summary Monogenic diabetes is estimated to account for 0.5–1.2% of all diabetes cases and remains underdiagnosed. It consists of a variety of subtypes associated with mutations in more than 25 genes. The main groups of monogenic diabetes include maturity-onset diabetes of the young (MODY), permane...

OBJECTIVE Misdiagnosis of maturity-onset diabetes of the young (MODY) remains widespread, despite the benefits of optimized management. This cross-sectional study examined diagnostic misclassification of MODY in subjects with clinically labeled young adult-onset type 1 and type 2 diabetes by extending genetic testing beyond current guidelines. RESEARCH DESIGN AND METHODS Individuals were sele...

BACKGROUND Maturity onset diabetes of the young type 2 (or GCK MODY) is a genetic form of diabetes mellitus provoked by mutations in the glucokinase gene (GCK). METHODOLOGY/PRINCIPAL FINDINGS We screened the GCK gene by direct sequencing in 30 patients from South Italy with suspected MODY. The mutation-induced structural alterations in the protein were analyzed by molecular modeling. The pati...

Jednym z najbardziej interesujących trendów obserwowanym obecnie w świecie muzealnictwa jest ekspansjamody, jako tematu wystaw i przedmiotu badań naukowych. Najpopularniejszymi wydarzeniami muzealnymi XXI wieku stały się czasowe ekspozycje dotyczące popkultury, stylu mody. Służą one nie tylko ożywieniu frekwencji wzmocnieniu muzealnych budżetów – są także sygnałem coraz silniejszej roli, jaką m...

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 ...

OBJECTIVE Mutations in the insulin (INS) gene can cause neonatal diabetes. We hypothesized that mutations in INS could also cause maturity-onset diabetes of the young (MODY) and autoantibody-negative type 1 diabetes. RESEARCH DESIGN AND METHODS We screened INS in 62 probands with MODY, 30 probands with suspected MODY, and 223 subjects from the Norwegian Childhood Diabetes Registry selected on...

OBJECTIVE — Among Europeans, mutations in the hepatocyte nuclear factor-1 (HNF1 ) gene are associated with the most common form of maturity-onset diabetes of the young (MODY)3. In Asian Indians, type 2 diabetes occurs earlier and often overlaps with MODY, but the genetics of the latter are unknown. The aim of this study was to estimate the prevalence of Ala98Val polymorphism of the HNF1 gene in...