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monogenic diabetes

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https://www.readbyqxmd.com/read/29777474/not-quite-type-1-or-type-2-what-now-review-of-monogenic-mitochondrial-and-syndromic-diabetes
#1
REVIEW
Roseanne O Yeung, Fady Hannah-Shmouni, Karen Niederhoffer, Mark A Walker
Diabetes mellitus is a heterogeneous group of conditions defined by resultant chronic hyperglycemia. Given the increasing prevalence of diabetes mellitus and the increasing understanding of genetic etiologies, we present a broad review of rare genetic forms of diabetes that have differing diagnostic and/or treatment implications from type 1 and type 2 diabetes. Advances in understanding the genotype-phenotype associations in these rare forms of diabetes offer clinically available examples of evolving precision medicine where defining the correct genetic etiology can radically alter treatment approaches...
May 18, 2018: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29764441/case-report-identification-of-an-hnf1b-p-arg527gln-mutation-in-a-maltese-patient-with-atypical-early-onset-diabetes-and-diabetic-nephropathy
#2
Nikolai Paul Pace, Johann Craus, Alex Felice, Josanne Vassallo
BACKGROUND: The diagnosis of atypical non-autoimmune forms of diabetes mellitus, such as maturity onset diabetes of the young (MODY) presents several challenges, in view of the extensive clinical and genetic heterogeneity of the disease. In this report we describe a case of atypical non autoimmune diabetes associated with a damaging HNF1β mutation. This is distinguished by a number of uncharacteristic clinical features, including early-onset obesity, the absence of renal cysts and diabetic nephropathy...
May 15, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29758564/monogenic-diabetes-in-overweight-and-obese-youth-diagnosed-with-type-2-diabetes-the-today-clinical-trial
#3
Jeffrey W Kleinberger, Kenneth C Copeland, Rachelle G Gandica, Morey W Haymond, Lynne L Levitsky, Barbara Linder, Alan R Shuldiner, Sherida Tollefsen, Neil H White, Toni I Pollin
PurposeMonogenic diabetes accounts for 1-2% of diabetes cases. It is often undiagnosed, which may lead to inappropriate treatment. This study was performed to estimate the prevalence of monogenic diabetes in a cohort of overweight/obese adolescents diagnosed with type 2 diabetes (T2D).MethodsSequencing using a custom monogenic diabetes gene panel was performed on a racially/ethnically diverse cohort of 488 overweight/obese adolescents with T2D in the Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) clinical trial...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29742915/redox-regulation-of-hexokinases
#4
Petr Heneberg
Significance Hexokinases are key enzymes that are responsible for the first reaction of glycolysis, but they also moonlight other cellular processes, including mitochondrial redox signaling regulation. Modulation of hexokinase activity and spatiotemporal location by reactive oxygen and nitrogen species as well as other gasotransmitters serves as the basis for a unique, underexplored method of tight and flexible regulation of these fundamental enzymes. Recent advances Redox modifications of thiols serve as a molecular code that enables the precise and complex regulation of hexokinases...
May 10, 2018: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/29734081/monogenic-diabetes-in-adults-what-are-the-new-developments
#5
REVIEW
Katharine R Owen
Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic causes of beta-cell dysfunction and diabetes arising in children and young adults. Making an accurate diagnosis of MODY is important for establishing the correct management. Recent advances in our understanding of human sequence variation, through data collated in resources such as the Exome Aggregation Consortium have refined guidelines for assessment of rare genetic variants. This will allow a more precise aetiological diagnosis in childhood and young adult diabetes...
May 4, 2018: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/29726111/clinical-usefulness-of-comprehensive-genetic-screening-in-mody-a-novel-abcc8-mutation-in-a-previously-screened-family
#6
Stephanie Robyn Johnson, Paul Leo, Louise Sonia Conwell, Mark Harris, Matthew Arthur Brown, Emma Letitia Duncan
Maturity-onset diabetes of the young (MODY) is the commonest form of monogenic diabetes, resulting from dominant mutations in one of fourteen genes that regulate beta-cell function (HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8,KCNJ11 and APPL1 1,2 ). MODY accounts for 2-2.5% of childhood diabetes 3 , yet MODY genetic screening is uncommon, even in highly suggestive families, and when performed often limited to the commonest genes (e.g.HNF1A and GCK) 4 .
May 4, 2018: Journal of Diabetes
https://www.readbyqxmd.com/read/29718281/comprehensive-endocrine-metabolic-evaluation-of-patients-with-alstr%C3%A3-m-syndrome-compared-to-bmi-matched-controls
#7
Joan C Han, Daniela P Reyes-Capo, Chia-Ying Liu, James C Reynolds, Evrim Turkbey, Ismail Baris Turkbey, Joy Bryant, Jan D Marshall, Jürgen K Naggert, William A Gahl, Jack A Yanovski, Meral Gunay-Aygun
Background: Alström syndrome (AS), a monogenic form of obesity, is caused by recessive mutations in the centrosome- and basal body-associated gene, ALMS1. AS is characterized by retinal dystrophy, sensory hearing loss, cardiomyopathy, childhood obesity, and metabolic derangements. Objective: We sought to characterize the endocrine and metabolic features of AS while accounting for obesity as a confounder by comparing patients with AS to BMI-matched controls. Methods: We evaluated 38 patients with AS (age 2-38y) who were matched with 76 controls (age 2-48y) by age, sex, race, and BMI...
April 27, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29699867/precision-medicine-in-the-management-of-type-2-diabetes
#8
REVIEW
Anna L Gloyn, Daniel J Drucker
The study of type 2 diabetes has been driven by advances in human genetics, epigenetics, biomarkers, mechanistic studies, and large clinical trials, enabling new insights into disease susceptibility, pathophysiology, progression, and development of complications. Simultaneously, several new drug classes with different mechanisms of action have been introduced over the past two decades, accompanied by data about cardiovascular safety and non-glycaemic outcomes. In this Review, we critically examine the progress and integration of this new science into clinical practice, and review opportunities for enabling the use of precision medicine in the diagnosis and treatment of type 2 diabetes...
April 23, 2018: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/29668472/obesity-in-childhood-and-adolescence-genetic-factors
#9
Marko Kostovski, Velibor Tasic, Nevena Laban, Momir Polenakovic, Dragan Danilovski, Zoran Gucev
Obesity and excess weight are a pandemic phenomenon in the modern world. Childhood and adolescent obesity often ends up in obesity in adults. The costs of obesity and its consequences are staggering for any society, crippling for countries in development. Childhood obesity is also widespread in Macedonia. Metabolic syndrome, dyslipidemia and carbohydrate intolerance are found in significant numbers. Parents and grandparents are often obese. Some of the children are either dysmorphic, or slightly retarded. We have already described patients with Prader-Willi syndrome, Bardet-Biedl syndrome or WAGR syndrome...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29666556/maturity-onset-diabetes-of-the-young-due-to-hnf1a-variants-in-croatia
#10
Tamara Pavić, Agata Juszczak, Edita Pape Medvidović, Carla Burrows, Mario Šekerija, Amanda J Bennett, Jadranka Ćuća Knežević, Anna L Gloyn, Gordan Lauc, Mark I McCarthy, Olga Gornik, Katharine R Owen
Introduction: Maturity onset diabetes of the young due to HNF1A mutations (HNF1A-MODY) is the most frequent form of monogenic diabetes in adults. It is often misdiagnosed as type 1 or type 2 diabetes, but establishing genetic diagnosis is important, as treatment differs from the common types of diabetes. HNF1A-MODY has not been investigated in Croatia before due to limited access to genetic testing. In this study we aimed to describe the characteristics of young adults diagnosed with diabetes before the age of 45 years, who have rare HNF1A allele variants, and estimate the prevalence of HNF1A-MODY in Croatia...
June 15, 2018: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
https://www.readbyqxmd.com/read/29576871/-de-novo-hnf1-homeobox-b-mutation-as-a-cause-for-chronic-treatment-resistant-hypomagnesaemia
#11
C E Stiles, R Thuraisingham, D Bockenhauer, L Platts, A V Kumar, M Korbonits
29-year-old female presenting with an 8-year history of unexplained hypomagnesaemia, which was severe enough to warrant intermittent inpatient admission for intravenous magnesium. Urinary magnesium was inappropriately normal in the context of hypomagnesaemia indicating magnesium wasting. Ultrasound imaging demonstrated unilateral renal cysts and computed tomography of kidneys, ureters and bladder showed a bicornuate uterus. Referral to genetic services and subsequent testing revealed a de novo HNF1B deletion...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29574432/primary-male-factor-infertility-due-to-asthenospermia-in-maturity-onset-diabetes-of-the-young-type-5-mody-5-uncommon-presentation-of-an-uncommon-disease
#12
Partha Pratim Chakraborty, Shinjan Patra, Sugata Narayan Biswas, Himanshu Barman
Mutations in hepatocyte nuclear factor-1β gene result in a multisystemic syndrome where a monogenic form of diabetes (maturity-onset diabetes of young type 5; MODY 5) and renal anomalies, usually bilateral multiple cysts are the most characteristic findings. Many of them have pancreatic structural abnormalities as well. A plethora of extrapancreatic manifestations like altered liver function tests, hypomagnesaemia, hyperuricaemia with/without gout and urogenital malformations, particularly in females are also components of the syndrome...
March 23, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29567659/genetic-drivers-of-pancreatic-islet-function
#13
Mark P Keller, Daniel M Gatti, Kathryn L Schueler, Mary E Rabaglia, Donnie S Stapleton, Petr Simecek, Matthew Vincent, Sadie Allen, Aimee Teo Broman, Rhonda Bacher, Christina Kendziorski, Karl W Broman, Brian S Yandell, Gary A Churchill, Alan D Attie
The majority of gene loci that have been associated with type 2 diabetes play a role in pancreatic islet function. To evaluate the role of islet gene expression in the etiology of diabetes, we sensitized a genetically diverse mouse population with a Western diet high in fat (45%-kcal) and sucrose (34%) and carried out genome-wide association mapping of diabetes-related phenotypes. We quantified mRNA abundance in the islets and identified 18,820 expression quantitative trait loci. We applied mediation analysis to identify candidate causal driver genes at loci that affect the abundance of numerous transcripts...
March 22, 2018: Genetics
https://www.readbyqxmd.com/read/29556237/regulation-of-cytokine-production-by-the-unfolded-protein-response-implications-for-infection-and-autoimmunity
#14
REVIEW
Judith A Smith
Protein folding in the endoplasmic reticulum (ER) is an essential cell function. To safeguard this process in the face of environmental threats and internal stressors, cells mount an evolutionarily conserved response known as the unfolded protein response (UPR). Invading pathogens induce cellular stress that impacts protein folding, thus the UPR is well situated to sense danger and contribute to immune responses. Cytokines (inflammatory cytokines and interferons) critically mediate host defense against pathogens, but when aberrantly produced, may also drive pathologic inflammation...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29527407/transient-neonatal-diabetes-mellitus-in-a-very-preterm-infant-due-to-abcc8-mutation
#15
Barbara Piccini, Caterina Coviello, Livia Drovandi, Artuso Rosangela, Francesca Monzali, Emilio Casalini, Sabrina Giglio, Sonia Toni, Carlo Dani
Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth. NDM can be permanent or transient (TNDM). We report the case of a preterm infant with TNDM due to an ABCC8 mutation identified by next-generation sequencing. The pancreatic adenosine triphosphate (ATP)-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes. The patient was successfully managed with insulin lispro at a 1:100 dilution, drawn up in an insulin pen injector with a 4-mm needle...
January 2018: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29525113/unilateral-renal-agenesis-and-abrupt-onset-diabetes-an-unfrequent-form-of-mody-type-diabetes
#16
María Del Mar Roca-Rodríguez, María Carmen Ayala-Ortega, Ana Isabel Jiménez-Millán, María Concepción García Calzado, María Soledad Ruiz de Adana, Florentino Carral-San Laureano
INTRODUCTION: MODY diabetes encompasses heterogeneous group of monogenic forms of diabetes with low prevalence. It is not easily diagnosed because of the increase in obesity and family history of diabetes in the general population. PATIENTS AND METHODS: We present a clinical case with cardinal symptoms, diabetes,renal insufficiency with no acidosis and with a family history of diabetes and renal agenesis. RESULTS: Distinguishing MODY diabetes from DM1 and DM2 is very important to ensure optimal treatment, and because the risk of complications depends on each genetic defect...
March 7, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29512259/the-prevalence-of-diabetes-in-australia-insights-from-the-fremantle-diabetes-study-phase-ii
#17
Wendy A Davis, Kirsten E Peters, Ashley Makepeace, Shaye Griffiths, Christine Bundell, Struan F A Grant, Sian Ellard, Andrew T Hattersley, S A Paul Chubb, David G Bruce, Timothy Me Davis
BACKGROUND: Accurate diabetes prevalence estimates are important for health service planning and prioritisation. Available data have limitations, suggesting that the contemporary burden of diabetes in Australia is best assessed from multiple sources. AIMS: To use systematic active detection of diabetes cases in a postcode-defined urban area through the Fremantle Diabetes Study Phase II (FDS2) to complement other epidemiological and survey data in estimating the national prevalence of diabetes and its types...
March 7, 2018: Internal Medicine Journal
https://www.readbyqxmd.com/read/29509210/better-diabetes-diagnoses-in-sweden
#18
Claude Marcus
The Swedish study Better Diabetes Diagnosis (BDD) has now been ongoing for ten years and detailed information and blood samples have been collected from more than 8000 children and adolescents with newly diagnosed diabetes. We have been able to demonstrate that by means of HLA diabetes antibodies and C-peptide the discrimination between type one and type 2 diabetes is improved. These analyses are therefore included in the clinical check-up for all children and adolescents in Sweden who are diagnosed with diabetes...
March 6, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29499103/precision-medicine-in-diabetes-prevention-classification-and-management
#19
REVIEW
Fangying Xie, Juliana Cn Chan, Ronald Cw Ma
Diabetes has become a major burden of healthcare expenditure. Diabetes management following a uniform treatment algorithm is often associated with progressive treatment failure and development of diabetic complications. Recent advances in our understanding of the genomic architecture of diabetes and its complications have provided the framework for development of precision medicine to personalize diabetes prevention and management. In the present review, we summarized recent advances in the understanding of the genetic basis of diabetes and its complications...
March 2, 2018: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29486427/pharmacogenetics-and-target-identification-in-diabetes
#20
REVIEW
Ewan R Pearson
In diabetes, pharmacogenetics can be used both to identify patient subgroups who will have most benefit and/or least harm from a particularly treatment, and to gain insights into the molecular mechanisms of drug action and disease aetiology. There is increasing evidence that genetic variation alters response to diabetes treatments-both in terms of glycaemic response and side effects. This can be seen with dramatic impact on clinical care, in patients with genetic forms of diabetes such as Maturity Onset Diabetes of the Young caused by HNF1A mutations, and Neonatal diabetes due to activating mutations in ABCC8 or KCNJ11...
February 24, 2018: Current Opinion in Genetics & Development
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