Maturity-onset diabetes of the young (MODY) is a genetically diverse endocrine disorder autosomal dominant inheritance characterized by pancreatic β-cell dysfunction.Since clinical symptoms are so similar, it can be difficult to diagnose MODY accurately, important consider patients family history and any other genetic risk factors when making diagnosis.Glucokinase (GCK) was first gene identifi...

Maturity-onset diabetes of the young (MODY) is a rare form of juvenile diabetes mellitus, defined by early onset, absence of ketosis, non-insulin-dependent diabetes and autosomal dominant inheritance. Advances in molecular genetic analysis have identified mutations accounting for different MODY subtypes, all of them associated with defects of insulin secretion. We present a case of a nine year-...

BACKGROUND There is scarcity of information on the clinical features and genetics of glucokinase-maturity-onset diabetes of the young (GCK-MODY) in China. The aim of the study was to investigate the clinical and molecular characteristics of Chinese children with GCK-MODY. METHODS Eleven children with asymptomatic hyperglycemia and clinically suspected GCK-MODY were identified from the databas...

BACKGROUND AND AIM Heterozygous inactivating mutations in the glucokinase (GCK) gene cause a hyperglycemic condition termed maturity-onset diabetes of the young (MODY) 2 or GCK-MODY. This is characterized by mild, stable, usually asymptomatic, fasting hyperglycemia that rarely requires pharmacological intervention. The aim of the present study was to screen for GCK gene mutations in Asian India...

Diabetes is a major public issue due to its high prevalence and long-term complications (1). The molecular pathogenesis of diabetes, however, remains largely unknown. The common forms of diabetes are syndromes with heterogeneous etiologies, each of which is influenced by polygenic and multiple environmental factors. Therefore, genetic and pathophysiologic analysis of diabetes remains a major ch...

OBJECTIVE To determine prevalence, genetic and phenotype characteristics of patients with hepatocyte nuclear factor-1α (HNF1A) variants in the Diabetes Patienten Verlaufsdokumenation (DPV) multicentre database and to examine the influence of HNF1A mutation type, or location on clinical phenotypes. PATIENTS AND METHODS Seventy-one DPV patients were labelled as HNF1A-MODY (MODY3). Forty-four pa...

Background. Type 2 diabetes mellitus (T2DM) is determined by genetic and environmental factors. There have been many studies on the relationship between the composition of the gastrointestinal bacterial flora, T2DM, and obesity. There are no data, however, on the gut microbiome structure in monogenic forms of the disease including Maturity Onset Diabetes of the Young (MODY). Methods. The aim of...

Context Variation in genes that cause maturity-onset diabetes of the young (MODY) has been associated with diabetes incidence and glycemic traits. Objectives This study aimed to determine whether genetic variation in MODY genes leads to differential responses to insulin-sensitizing interventions. Design and Setting This was a secondary analysis of a multicenter, randomized clinical trial, t...

Inactivating mutations in the transcription factor hepatocyte nuclear factor (HNF) 1A cause HNF1A-maturity-onset diabetes of the young (HNF1A-MODY), the most common monogenic form of diabetes. To examine HNF1A-MODY-induced defects in gene expression, we performed a microarray analysis of the transcriptome of rat INS-1 cells inducibly expressing the common hot spot HNF1A frameshift mutation, Pro...

preserved beta-cell function and negative autoantibodies [7] . While a family history of diabetes is rare in youth with T1DM, individuals with MODY and standard T2DM will show a strong family history of T2DM. There are demographic differences in the types of childhood diabetes. Although the incidence of T1DM is higher in white children, the incidence is increasing in black children [8] , and th...