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https://www.readbyqxmd.com/read/29020906/the-prevalence-of-monogenic-diabetes-in-australia-the-fremantle-diabetes-study-phase-ii
#1
Timothy Me Davis, Ashley E Makepeace, Sian Ellard, Kevin Colclough, Kirsten Peters, Andrew Hattersley, Wendy A Davis
OBJECTIVE: To determine the prevalence of monogenic diabetes in an Australian community. DESIGN: Longitudinal observational study of a cohort recruited between 2008 and 2011. SETTING: Urban population of 157 000 people (Fremantle, Western Australia). PARTICIPANTS: 1668 (of 4639 people with diabetes) who consented to participation (36.0% participation). MAIN OUTCOME MEASURES: Prevalence of maturity-onset diabetes of the young (MODY) and permanent neonatal diabetes in patients under 35 years of age, from European and non-European ethnic backgrounds, who were at risk of MODY according to United Kingdom risk prediction models, and who were then genotyped for relevant mutations...
October 16, 2017: Medical Journal of Australia
https://www.readbyqxmd.com/read/28934671/the-hnf1a-mutant-ala180val-clinical-challenges-in-determining-causality-of-a-rare-hnf1a-variant-in-familial-diabetes
#2
J V Sagen, L Bjørkhaug, B I Haukanes, L Grevle, J Molnes, B G Nedrebø, O Søvik, P R Njølstad, S Johansson, A Molven
AIMS: Heterozygous mutations in hepatocyte nuclear factor-1A (HNF1A) cause maturity-onset diabetes of the young type 3 (MODY3). Our aim was to compare two families with suspected dominantly inherited diabetes and a new HNF1A variant of unknown clinical significance. METHODS: The HNF1A gene was sequenced in two independently recruited families from the Norwegian MODY Registry. Both familes were phenotyped clinically and biochemically. Microsatellite markers around and within the HNF1A locus were used for haplotyping...
September 1, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28925365/generation-of-an-induced-pluripotent-stem-cell-ipsc-line-from-a-patient-with-maturity-onset-diabetes-of-the-young-type-13-mody13-with-a-the-potassium-inwardly-rectifying-channel-subfamily-j-member-11-kcnj11-mutation
#3
Frank Griscelli, Olivier Feraud, Tony Ernault, Noufissa Oudrihri, Ali G Turhan, Amélie Bonnefond, Philippe Froguel, Annelise Bennaceur-Griscelli
Heterozygous activating mutation (p.Glu227Lys) in KCNJ11 leads to maturity-onset diabetes of the young (MODY) type 13, that is a subtype of dominant inherited young-onset non-autoimmune diabetes due to a primary defect in pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with KCNJ11(p.Glu227Lys) mutation who developed MODY at 13years old. KCNJ11(p.Glu227Lys)-mutated cells that were reprogrammed by non-integrative viral transduction had normal karyotype, harboured the KCNJ11(p...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28899902/pharmacological-inhibition-of-protein-tyrosine-phosphatase-1b-protects-against-atherosclerotic-plaque-formation-in-the-ldlr-mouse-model-of-atherosclerosis
#4
Dawn Thompson, Nicola Morrice, Louise Grant, Samantha Le Sommer, Emma K Lees, Nimesh Mody, Heather M Wilson, Mirela Delibegovic
Cardiovascular disease (CVD) is the most prevalent cause of mortality among patients with type 1 or type 2 diabetes, due to accelerated atherosclerosis. Recent evidence suggests a strong link between atherosclerosis and insulin resistance, due to impaired insulin receptor (IR) signalling. Here, we demonstrate that inhibiting the activity of protein tyrosine phosphatase 1B (PTP1B), the major negative regulator of the IR prevents and reverses atherosclerotic plaque formation in an LDLR(-/-) mouse model of atherosclerosis...
October 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28840639/use-of-oral-antidiabetic-drugs-in-the-treatment-of-maturity-onset-diabetes-of-the-young-mody-a-minireview
#5
REVIEW
Ludmila Brunerova, Dario Rahelić, Antonio Ceriello, Jan Broz
BACKGROUND: MODY (Maturity-onset diabetes of the young) is a genetically linked group of clinically heterogeneous subtypes of diabetes. Roughly 5% of people with diabetes mellitus diagnosed prior to age 45 have MODY diabetes, the majority of whom have been erroneously diagnosed as patients with either Type 1 or Type 2 diabetes and, as a result, have been improperly treated. Genetic identification of MODY diabetes and its subtypes allows proper treatment and enables clinicians to switch many patients to oral antidiabetic agents, mainly sulphonylureas...
August 24, 2017: Diabetes/metabolism Research and Reviews
https://www.readbyqxmd.com/read/28835481/incremental-cost-effectiveness-of-algorithm-driven-genetic-testing-versus-no-testing-for-maturity-onset-diabetes-of-the-young-mody-in-singapore
#6
Hai Van Nguyen, Eric Andrew Finkelstein, Shweta Mital, Daphne Su-Lyn Gardner
BACKGROUND: Offering genetic testing for Maturity Onset Diabetes of the Young (MODY) to all young patients with type 2 diabetes has been shown to be not cost-effective. This study tests whether a novel algorithm-driven genetic testing strategy for MODY is incrementally cost-effective relative to the setting of no testing. METHODS: A decision tree was constructed to estimate the costs and effectiveness of the algorithm-driven MODY testing strategy and a strategy of no genetic testing over a 30-year time horizon from a payer's perspective...
August 23, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28804970/arrhythmogenic-gene-remodelling-in-elderly-patients-with-type-2-diabetes-with-aortic-stenosis-and-normal-left-ventricular-ejection-fraction
#7
R Ashrafi, P Modi, A Y Oo, D M Pullan, K Jian, H Zhang, J Yanni Gerges, G Hart, M R Boyett, G K Davis, J P H Wilding
What is the central question of this study? Type 2 diabetes is associated with a higher rate of ventricular arrhythmias compared with the non-diabetic population, but the associated myocardial gene expression changes are unknown; furthermore, it is also unknown whether any changes are attributable to chronic hyperglycaemia or are a consequence of structural changes. What is the main finding and its importance? We found downregulation of left ventricular ERG gene expression and increased NCX1 gene expression in humans with type 2 diabetes compared with control patients with comparable left ventricular hypertrophy and possible myocardial fibrosis...
August 14, 2017: Experimental Physiology
https://www.readbyqxmd.com/read/28804210/efficacy-and-safety-of-alogliptin-in-a-pediatric-patient-with-maturity-onset-diabetes-of-the-young-type-1
#8
Ryosuke Tonouchi, Yusuke Mine, Masako Aoki, Misako Okuno, Junichi Suzuki, Tatsuhiko Urakami
The first-line pharmacological treatment for patients with maturity-onset diabetes of the young type 1 (MODY1) and maturity-onset diabetes of the young type 3 (MODY3) are sulfonylureas (SUs) or insulin. However, several reports have suggested the possibility of using incretin-associated drugs, including dipeptidyl-peptidase-4 (DPP-4) inhibitors, for the treatment of patients with these types of MODY. Here we report a case of a pediatric patient with MODY1 who was successfully treated with a DPP-4 inhibitor, alogliptin...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28754804/fifteen-minute-consultation-monogenic-forms-of-diabetes-with-onset-after-age-6-months
#9
Emma M Dyer, Rakesh Amin
Monogenic forms of diabetes (historically known as Maturity Onset Diabetes of the Young (MODY)) are caused by single gene mutations inherited in an autosomal dominant fashion that result in reduced pancreatic beta cell function. Children with these forms of diabetes may be misdiagnosed as having type 1 or 2 diabetes, which has important implications for treatment, genetic counselling, screening of family members and prognosis. Useful tools now exist to aid in their diagnosis and management. Here, we attempt to outline the clinical features that will help the physician make the differentiation from other diabetes subtypes...
July 28, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28752048/myeloid-protein-tyrosine-phosphatase-1b-ptp1b-deficiency-protects-against-atherosclerotic-plaque-formation-in-the-apoe-mouse-model-of-atherosclerosis-with-alterations-in-il10-ampk%C3%AE-pathway
#10
D Thompson, N Morrice, L Grant, S Le Sommer, K Ziegler, P Whitfield, N Mody, H M Wilson, M Delibegović
OBJECTIVE: Cardiovascular disease (CVD) is the most prevalent cause of mortality among patients with Type 1 or Type 2 diabetes, due to accelerated atherosclerosis. Recent evidence suggests a strong link between atherosclerosis and insulin resistance due to impaired insulin receptor (IR) signaling. Moreover, inflammatory cells, in particular macrophages, play a key role in pathogenesis of atherosclerosis and insulin resistance in humans. We hypothesized that inhibiting the activity of protein tyrosine phosphatase 1B (PTP1B), the major negative regulator of the IR, specifically in macrophages, would have beneficial anti-inflammatory effects and lead to protection against atherosclerosis and CVD...
August 2017: Molecular Metabolism
https://www.readbyqxmd.com/read/28663157/phenotype-heterogeneity-in-glucokinase-maturity-onset-diabetes-of-the-young-gck-mody-patients
#11
Anna Wędrychowicz, Ewa Tobór, Magdalena Wilk, Ewa Ziółkowska-Ledwith, Anna Rams, Katarzyna Wzorek, Barbara Sabal, Małgorzata Stelmach, Jerzy B Starzyk
OBJECTIVE: The aim of the study was to evaluate the clinical phenotypes of glucokinase-maturity-onset diabetes of the young (GCK-MODY) pediatric patients from Southwest Poland and to search for phenotype-genotype correlations. METHODS: We conducted a retrospective analysis of data on 37 CGK-MODY patients consisting of 21 girls and 16 boys of ages 1.9-20.1 (mean 12.5±5.2) years, treated in our centre in the time period between 2002 and 2013. RESULTS: GCK-MODY carriers were found in a frequency of 3% among 1043 diabetes mellitus (DM) patients and constituted the second most numerous group of DM patients, following type 1 DM, in our centre...
September 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28593615/a-single-dose-of-dapagliflozin-an-sglt-2-inhibitor-induces-higher-glycosuria-in-gck-and-hnf1a-mody-than-in-type-2-diabetes-mellitus
#12
J Hohendorff, M Szopa, J Skupien, M Kapusta, B Zapala, T Platek, S Mrozinska, T Parpan, W Glodzik, A Ludwig-Galezowska, B Kiec-Wilk, T Klupa, M T Malecki
AIMS: SGLT2 inhibitors are a new class of oral hypoglycemic agents used in type 2 diabetes (T2DM). Their effectiveness in maturity onset diabetes of the young (MODY) is unknown. We aimed to assess the response to a single dose of 10 mg dapagliflozin in patients with Hepatocyte Nuclear Factor 1 Alpha (HNF1A)-MODY, Glucokinase (GCK)-MODY, and type 2 diabetes. METHODS: We examined 14 HNF1A-MODY, 19 GCK-MODY, and 12 type 2 diabetes patients. All studied individuals received a single morning dose of 10 mg of dapagliflozin added to their current therapy of diabetes...
August 2017: Endocrine
https://www.readbyqxmd.com/read/28577853/loss-of-transcriptional-activation-of-the-potassium-channel-kir5-1-by-hnf1%C3%AE-drives-autosomal-dominant-tubulointerstitial-kidney-disease
#13
Andreas Kompatscher, Jeroen H F de Baaij, Karam Aboudehen, Anke P W M Hoefnagels, Peter Igarashi, René J M Bindels, Gertjan J C Veenstra, Joost G J Hoenderop
Hepatocyte nuclear factor 1 homeobox B (HNF1β) is an essential transcription factor for the development and functioning of the kidney. Mutations in HNF1β cause autosomal dominant tubulointerstitial kidney disease characterized by renal cysts and maturity-onset diabetes of the young (MODY). Moreover, these patients suffer from a severe electrolyte phenotype consisting of hypomagnesemia and hypokalemia. Until now, genes that are regulated by HNF1β are only partially known and do not fully explain the phenotype of the patients...
May 31, 2017: Kidney International
https://www.readbyqxmd.com/read/28502589/a-case-of-a-novel-mutation-in-hnf1%C3%AE-related-maturity-onset-diabetes-of-the-young-type-5-with-diabetic-kidney-disease-complication-in-a-chinese-family
#14
Yiting Wang, Yingwang Zhao, Junlin Zhang, Yuxiang Yang, Fang Liu
AIMS: Precise diagnosis of maturity-onset diabetes of the young (MODY) has proven valuable for understanding mechanism of diabetes and selecting optimal therapy. A proband and her mother with diabetic kidney disease (DKD) were studied to investigate potential genes responsible for diabetes and different severity of DKD between the parent and offspring. METHODS: The family with suspected MODY underwent mutational analyses by the whole exome sequencing (WES). Candidate pathogenic variants were validated by Sanger sequencing and tested for co-segregation...
November 15, 2016: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/28436541/pdx1-mody-and-dorsal-pancreatic-agenesis-new-phenotype-of-a-rare-disease
#15
L A Caetano, L S Santana, A D Costa-Riquetto, A M Lerario, M Nery, G F Nogueira, C D Ortega, M S Rocha, A A L Jorge, M G Teles
Maturity-Onset Diabetes of the Young (MODY) type 4 or PDX1 -MODY is a rare form of monogenic diabetes caused by heterozygous variants in PDX1 . Pancreatic developmental anomalies related to PDX1 are reported only in neonatal diabetes cases. Here, we describe dorsal pancreatic agenesis in 2 patients with PDX1 -MODY. The proband presented with diabetes since 14 years of age and maintained regular glycemic control with low doses of basal insulin and detectable C-peptide levels after 38 years with diabetes. A diagnosis of MODY was suspected...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28436179/monogenic-diabetes-prevalence-among-polish-children-summary-of-11%C3%A2-years-long-nationwide-genetic-screening-program
#16
Beata Małachowska, Maciej Borowiec, Karolina Antosik, Arkadiusz Michalak, Anna Baranowska-Jaźwiecka, Grażyna Deja, Przemysława Jarosz-Chobot, Agnieszka Brandt, Małgorzata Myśliwiec, Małgorzata Stelmach, Joanna Nazim, Jadwiga Peczyńska, Barbara Głowińska-Olszewska, Anita Horodnicka-Józwa, Mieczysław Walczak, Maciej T Małecki, Agnieszka Zmysłowska, Agnieszka Szadkowska, Wojciech Fendler, Wojciech Młynarski
BACKGROUND: Estimated monogenic diabetes (MD) prevalence increases as screening programs proceeds. OBJECTIVE: To estimate prevalence of MD among Polish children. SUBJECTS: Patients and their family members suspected of suffering from MD (defined as causative mutation in one of the Maturity Onset Diabetes of the Young or permanent neonatal diabetes mellitus genes) were recruited between January 2005 and December 2015. METHODS: Nationwide prevalence was estimated based on data from 6 administrative provinces (out of 16 in Poland) with high referral rates of patients (>10 per 100 000 children)...
April 24, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28395978/the-spectrum-of-hnf1a-gene-mutations-in-patients-with-mody-3-phenotype-and-identification-of-three-novel-germline-mutations-in-turkish-population
#17
Emin Karaca, Huseyin Onay, Sevki Cetinkalp, Ayca Aykut, Damla Göksen, Samim Ozen, Tahir Atik, Sukran Darcan, Ismihan Merve Tekin, Ferda Ozkınay
BACKGROUND: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset, and pancreatic beta cell dysfunction. Heterozygous mutations in several genes may cause MODY. METHODS: In the present study, we investigated the molecular spectrum of HNF1A (hepatocyte nuclear factor 1a) mutations, in the individuals referred to a reference center for molecular genetic analysis. Mutations screening was performed in a group of 136 unrelated patients (average age 17...
March 31, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28387648/dysmorphic-features-frontal-cerebral-cavernoma-and-hyperglycemia-in-a-girl-with-a-de-novo-deletion-of-7-23-mb-in-region-7p13-p12-1
#18
Gilberto Pérez López, Beatriz Villafuerte Quispe, María José Cabrejas Núñez, Luis Castaño, Raquel Barrio
We describe the case of a 7 year old girl referred to our Diabetes Unit for hyperglycemia associated to facial dysmorphic features, intellectual disability and cerebral cavernomas, who was initially diagnosed with type 1 diabetes mellitus (positive anti-IA2 antibody and HLA DR3/DR4/DQ2). In follow up, due to the evolution of the diabetes (very good metabolic control with low insulin dose and negative IA-2 antibodies - samples analyzed in two different laboratories-), first clinical suspicion was GCK-related Maturity-Onset Diabetes of the Young (MODY 2) by persistent mild hyperglycemia in the fasting state, which was substantiated in Multiplex Ligation-dependent Probe Amplification (MLPA)...
April 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28323911/monogenic-diabetes-accounts-for-6-3-of-cases-referred-to-15-italian-pediatric-diabetes-centers-during-2007-to-2012
#19
Maurizio Delvecchio, Enza Mozzillo, Giuseppina Salzano, Dario Iafusco, Giulio Frontino, Patrizia I Patera, Ivana Rabbone, Valentino Cherubini, Valeria Grasso, Nadia Tinto, Sabrina Giglio, Giovanna Contreas, Rosa Di Paola, Alessandro Salina, Vittoria Cauvin, Stefano Tumini, Giuseppe d'Annunzio, Lorenzo Iughetti, Vilma Mantovani, Giulio Maltoni, Sonia Toni, Marco Marigliano, Fabrizio Barbetti
Context: An etiologic diagnosis of diabetes can affect the therapeutic strategy and prognosis of chronic complications. Objective: The aim of the present study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers and the influence of an etiologic diagnosis on therapy. Design, Setting, and Patients: This was a retrospective study. The clinical records of 3781 consecutive patients (age, 0 to 18 years) referred to 15 pediatric diabetes clinics with a diagnosis of diabetes or impaired fasting glucose from January 1, 2007 to December 31, 2012 were examined...
June 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28314945/precision-diabetes-learning-from-monogenic-diabetes
#20
REVIEW
Andrew T Hattersley, Kashyap A Patel
The precision medicine approach of tailoring treatment to the individual characteristics of each patient or subgroup has been a great success in monogenic diabetes subtypes, MODY and neonatal diabetes. This review examines what has led to the success of a precision medicine approach in monogenic diabetes (precision diabetes) and outlines possible implications for type 2 diabetes. For monogenic diabetes, the molecular genetics can define discrete aetiological subtypes that have profound implications on diabetes treatment and can predict future development of associated clinical features, allowing early preventative or supportive treatment...
March 17, 2017: Diabetologia
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