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MODY type diabetes

Danièle Pacaud, Anke Schwandt, Carine de Beaufort, Kristina Casteels, Jacques Beltrand, Niels H Birkebaek, Myrna Campagnoli, Natasa Bratina, Catarina Limbert, Stephen Mp O'Riordan, Rogério Ribeiro, Andriani Gerasimidi-Vazeou, Lenka Petruzelkova, Rasa Verkauskiene, Iveta Dzivite Krisane
BACKGROUND: Although type 1 diabetes (T1D) remains the most frequent form of diabetes in individuals aged less than 20 years at onset, other forms of diabetes are being increasingly recognized. OBJECTIVES: To describe the population of children with other forms of diabetes (non-type 1) included in the multinational SWEET (Better control in Pediatric and Adolescent diabeteS: Working to crEate CEnTers of Reference) database for children with diabetes. METHODS: Cases entered in the SWEET database are identified by their physician as T1D, type 2 diabetes (T2D) and other types of diabetes according to the ISPAD classification...
October 2016: Pediatric Diabetes
Barbara Piccini, Rosangela Artuso, Lorenzo Lenzi, Monica Guasti, Giulia Braccesi, Federica Barni, Emilio Casalini, Sabrina Giglio, Sonia Toni
Correct diagnosis of Maturity-Onset Diabetes of the Young (MODY) is based on genetic tests requiring an appropriate subject selection by clinicians. Mutations in the insulin (INS) gene rarely occur in patients with MODY. This study is aimed at determining the genetic background and clinical phenotype in patients with suspected MODY. 34 patients with suspected MODY, negative for mutations in the GCK, HNF1α, HNF4α, HNF1β and PDX1 genes, were screened by next generation sequencing (NGS). A heterozygous INS mutation was identified in 4 members of the same family...
September 19, 2016: European Journal of Medical Genetics
Helmut Kleinwechter, Norbert Demandt
In Germany in 5.5% of all births diabetes is registered. In patients with type 1 and type 2 diabetes planning pregnancy, preconception counseling, diabetologic care with optimized periconceptional metabolic control and folic acid supplementation are essential for good pregnancy outcome. Gestational diabetes (GDM) should be diagnosed timely and managed according to existing guidelines. GDM is treated with insulin in approximately 20%. In 1-2% of GDM cases a glucokinase gene mutation is present (MODY 2). Pregnancies after bariatric-metabolic surgery are increasing and show high risks...
September 2016: Deutsche Medizinische Wochenschrift
Jeffrey W Kleinberger, Kristin A Maloney, Toni I Pollin
The genetic architecture of diabetes mellitus in general and in pregnancy is complex, owing to the multiple types of diabetes that comprise both complex/polygenic forms and monogenic (largely caused by a mutation in a single gene) forms such as maturity-onset diabetes of the young (MODY). Type 1 diabetes (T1D) and type 2 diabetes (T2D) have complex genetic etiologies, with over 40 and 90 genes/loci, respectively, implicated that interact with environmental/lifestyle factors. The genetic etiology of gestational diabetes mellitus has largely been found to overlap that of T2D...
August 29, 2016: American Journal of Perinatology
Eun Byul Kwon, Hae Sang Lee, Young Seok Shim, Hwal Rim Jeong, Jin Soon Hwang
PURPOSE: We studied the changes in subtypes of diabetes mellitus (DM) in children and evaluated the characteristics of each group over the past 20 years. In addition, we also examined the correlation between the glycated hemoglobin (HbA1c) values at the time of diagnosis and lipid profiles. METHODS: The patients were divided into 2 groups: there were a total of 190 patients under 20 years of age firstly diagnosed with DM in Ajou University Hospital. The patients in groups I and II were diagnosed from September 1995 to December 2004 and from January 2005 to April 2014, respectively...
June 2016: Annals of Pediatric Endocrinology & Metabolism
Maki Moritani, Ichiro Yokota, Reiko Horikawa, Tatsuhiko Urakami, Aki Nishii, Tomoyuki Kawamura, Nobuyuki Kikuchi, Touru Kikuchi, Tsutomu Ogata, Shigetaka Sugihara, Shin Amemiya
BACKGROUND: Monogenic mutations, such as those in the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) and insulin (INS) genes, are identified in young patients with type 1B diabetes (non-autoimmune-mediated). We recently reported the results of a test for monogenic forms of diabetes in Japanese children who were diagnosed with type 1B diabetes at <5 years of age. In this study, we tested for monogenic forms of diabetes in Japanese children aged >5 to ≤15...
September 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Florence Sens, Justine Bacchetta, Maud Rabeyrin, Laurent Juillard
We report a case of a 37-year-old man with Maturity Onset Diabetes of the Youth (MODY) type 5, admitted for an episode of cholestasis and a simultaneous acute kidney injury (AKI). Chronic liver disease was due to a mutation in the transcription factor 2 (TCF2) gene, thus highlighting the need for a close liver follow-up in these patients. AKI was attributed to a cholemic nephropathy based on the following rationale: (1) alternative diagnoses were actively ruled out; (2) the onset of AKI coincided with the onset of severe hyperbilirubinaemia; (3) renal pathology showed large bile tubular casts and a marked tubular necrosis and (4) creatinine serum dramatically decreased when bilirubin levels improved after the first sessions of extracorporeal albumin dialysis (ECAD), thus suggesting its role in renal recovery...
2016: BMJ Case Reports
Renata P Dotto, Fernando M A Giuffrida, Luciana Franco, Andreia L G Mathez, Leticia S Weinert, Sandra P Silveiro, Joao R Sa, Andre F Reis, Magnus R Dias-da-Silva
Thirty-two patients with diabetes negative for point mutations in GCK and HNF1A underwent further molecular screening of GCK, HNF1A, HNF4A, and HNF1B by MLPA analysis. We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.
June 2016: Diabetes Research and Clinical Practice
Karen M Logan, Chris Gale, Matthew J Hyde, Shalini Santhakumaran, Neena Modi
OBJECTIVE: Maternal glycaemia and anthropometry-derived newborn adiposity are strongly correlated. The children of mothers with diabetes are at greater risk of adverse metabolic health, and increased adiposity is a plausible mediator. We undertook a systematic review and meta-analysis to compare adiposity in infants of diabetic mothers (IDM) and infants of mothers without diabetes (NIDM). DESIGN: We identified observational studies reporting adiposity in IDM and NIDM...
May 26, 2016: Archives of Disease in Childhood. Fetal and Neonatal Edition
Kashyap A Patel, Richard A Oram, Sarah E Flanagan, Elisa De Franco, Kevin Colclough, Maggie Shepherd, Sian Ellard, Michael N Weedon, Andrew T Hattersley
Distinguishing patients with monogenic diabetes from those with type 1 diabetes (T1D) is important for correct diagnosis, treatment, and selection of patients for gene discovery studies. We assessed whether a T1D genetic risk score (T1D-GRS) generated from T1D-associated common genetic variants provides a novel way to discriminate monogenic diabetes from T1D. The T1D-GRS was highly discriminative of proven maturity-onset diabetes of young (MODY) (n = 805) and T1D (n = 1,963) (receiver operating characteristic area under the curve 0...
July 2016: Diabetes
Akiko Sarashina, Christian Friedrich, Susanne Crowe, Sanjay Patel, Ulrike Graefe-Mody, Naoyuki Hayashi, Yoshiharu Horie
AIMS/INTRODUCTION: The efficacy and safety of drugs can vary between different races or ethnic populations because of differences in the relationship of dose to exposure, pharmacodynamic response or clinical efficacy and safety. In the present post-hoc analysis, we assessed the influence of race on the pharmacokinetics, pharmacodynamics, efficacy and safety of monotherapy with the dipeptidyl peptidase-4 inhibitor, linagliptin, in patients with type 2 diabetes enrolled in two comparable, previously reported randomized phase III trials...
September 2016: Journal of Diabetes Investigation
Jing Yang, Feng Jiang, Hui Guo, Thadimacca Soniya, Chun-Xia Yan, Zhu-Fang Tian, Bing-Yin Shi
Maturity-onset diabetes of the young (MODY), one of the specific types of diabetes mellitus, is a monogenetic disorder characterized by an autosomal dominant (AD) inheritance and β-cell dysfunction. To study an Indian family with clinical diagnosis of MODY and detect the genetic mutations in the aspect of molecular mechanism, seven blood samples were obtained from the diabetic patients of this pedigree and genomic DNA was extracted from peripheral leukocytes. The exon1, exon2 and exon4 of hepatocyte nuclear factor-1α (HNF-1α) gene were amplified by polymerase chain reaction...
2016: Cell & Bioscience
Birgit Knebel, Susanne Mack, Jutta Haas, Mona Kathrin Herman-Friede, Simone Lange, Oliver Schubert, Jorg Kotzka, Dirk Muller-Wieland
BACKGROUND: Maturity onset diabetes of the young (MODY) is an autosomal dominant form of non-insulin-dependent diabetes mellitus caused by mutations in at least 13 different genes. The hepatocyte nuclear factor (HNF)-1α gene is affected in the most common form (HNF1A-MODY [MODY3]). CASE PRESENTATION: We describe the co-inheritance of a novel heterozygous missense mutation c.1761C > G (p.Pro588Ala) with a novel complex deletion insertion mutation (c.1765_1766delinsGCCCGfs86*) in the HNF-1α gene among affected members of one family...
2016: BMC Medical Genetics
Shazhan Amed, Richard Oram
Maturity onset diabetes of the young (MODY) is a rare but increasingly recognized cause of diabetes in young people. It is a monogenic disorder that typically presents at <25 years of age, is non-insulin dependent and is familial, with an autosomal dominant pattern of inheritance. The most common forms of MODY are caused by mutations in glucokinase and hepatic nuclear factor 1 alpha or 4 alpha genes and account for almost 80% of cases of MODY. MODY is commonly misdiagnosed as type 1 or type 2 diabetes and, as a result, patients are often inappropriately managed with insulin when they can be more effectively managed with oral sulfonylureas...
April 26, 2016: Canadian Journal of Diabetes
José Timsit, Cécile Saint-Martin, Danièle Dubois-Laforgue, Christine Bellanné-Chantelot
Maturity-onset diabetes of the young (MODY) is a group of monogenic diseases that results in primary defects in insulin secretion and dominantly inherited forms of nonautoimmune diabetes. Although many genes may be associated with monogenic diabetes, heterozygous mutations in 6 of them are responsible for the majority of cases of MODY. Glucokinase (GCK)-MODY is due to mutations in the glucokinase gene, 3 MODY subtypes are associated with mutations in the hepatocyte nuclear factor (HNF) transcription factors, and 2 others with mutations in ABCC8 and KCNJ11, which encode the subunits of the ATP-dependent potassium channel in pancreatic beta cells...
April 18, 2016: Canadian Journal of Diabetes
Sara Terryn, Karo Tanaka, Jean-Philippe Lengelé, Eric Olinger, Danièle Dubois-Laforgue, Serge Garbay, Renata Kozyraki, Patrick Van Der Smissen, Erik I Christensen, Pierre J Courtoy, Christine Bellanné-Chantelot, José Timsit, Marco Pontoglio, Olivier Devuyst
Hepatocyte nuclear factor 1α (HNF1α) is a transcription factor expressed in the liver, pancreas, and proximal tubule of the kidney. Mutations of HNF1α cause an autosomal dominant form of diabetes mellitus (MODY-HNF1A) and tubular dysfunction. To gain insights into the role of HNF1α in the proximal tubule, we analyzed Hnf1a-deficient mice. Compared with wild-type littermates, Hnf1a knockout mice showed low-molecular-weight proteinuria and a 70% decrease in the uptake of β2-microglobulin, indicating a major endocytic defect due to decreased expression of megalin/cubilin receptors...
May 2016: Kidney International
Wojciech Fendler, Joanna Madzio, Kamil Kozinski, Kashyap Patel, Justyna Janikiewicz, Magdalena Szopa, Adam Tracz, Maciej Borowiec, Przemyslawa Jarosz-Chobot, Malgorzata Mysliwiec, Agnieszka Szadkowska, Andrew T Hattersley, Sian Ellard, Maciej T Malecki, Agnieszka Dobrzyn, Wojciech Mlynarski
AIMS/HYPOTHESIS: We aimed to identify microRNAs (miRNAs) under transcriptional control of the HNF1β transcription factor, and investigate whether its effect manifests in serum. METHODS: The Polish cohort (N = 60) consisted of 11 patients with HNF1B-MODY, 17 with HNF1A-MODY, 13 with GCK-MODY, an HbA1c-matched type 1 diabetic group (n = 9) and ten healthy controls. Replication was performed in 61 clinically-matched British patients mirroring the groups in the Polish cohort...
July 2016: Diabetologia
Susanne Kaser, Michael Resl
Maturity onset diabetes of the young (MODY) is a group of monogenetic diabetes types affecting up to 2% all known diabetics. Transcription factor MODY (HNF1α, HNF4α), the most frequent forms of MODY, allow treatment with sulfonylureas, mutations of glucokinase (GCK-MODY) usually do not require any therapy. Especially in younger patients correct diagnosis of MODY often results in discontinuation of insulin therapy and initiation of a sulfonylurea. Accordingly, in patients with diabetes onset below age of 25 years, with a positive family history for diabetes and negative autoantibodies screening for MODY is recommended...
April 2016: Wiener Klinische Wochenschrift
Marta Szabat, Honey Modi, Reshma Ramracheya, Vroni Girbinger, Forson Chan, Jason T C Lee, Micah Piske, Sepehr Kamal, Yu Hsuan Carol Yang, Andrea Welling, Patrik Rorsman, James D Johnson
Insulin production is the central feature of functionally mature and differentiated pancreatic β-cells. Reduced insulin transcription and dedifferentiation have been implicated in type 2 diabetes, making drugs that could reverse these processes potentially useful. We have previously established ratiometric live-cell imaging tools to identify factors that increase insulin promoter activity and promote β-cell differentiation. Here, we present a single vector imaging tool with eGFP and mRFP, driven by the Pdx1 and Ins1 promoters, respectively, targeted to the nucleus to enhance identification of individual cells in a high-throughput manner...
December 2015: Royal Society Open Science
Ying Yang, Tai-Cheng Zhou, Yong-Ying Liu, Xiao Li, Wen-Xue Wang, David M Irwin, Ya-Ping Zhang
Maturity-onset diabetes of the young (MODY) is characterized by the onset of diabetes before the age of 25 years, positive family history, high genetic predisposition, monogenic mutations, and an autosomal dominant mode of inheritance. Here, we aimed to investigate the mutations and to characterize the phenotypes of a Han Chinese family with early-onset maternally inherited type 2 diabetes. Detailed clinical assessments and genetic screening for mutations in the HNF4α, GCK, HNF-1α, IPF-1, HNF1β, and NEUROD1 genes were carried out in this family...
2016: Journal of Diabetes Research
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