keyword
MENU ▼
Read by QxMD icon Read
search

MODY2

keyword
https://www.readbyqxmd.com/read/27852188/a-review-of-maturity-onset-diabetes-of-the-young-mody-and-challenges-in-the-management-of-glucokinase-mody
#1
Ramy H Bishay, Jerry R Greenfield
Maturity onset diabetes of the young (MODY), the most common monogenic form of diabetes, accounts for 1-2% of all diabetes diagnoses. Glucokinase (GCK)-MODY (also referred to as MODY2) constitutes 10-60% of all MODY cases and is inherited as an autosomal dominant heterozygous mutation, resulting in loss of function of the GCK gene. Patients with GCK-MODY generally have mild, fasting hyperglycaemia that is present from birth, are commonly leaner and diagnosed at a younger age than patients with type 2 diabetes, and rarely develop complications from diabetes...
November 21, 2016: Medical Journal of Australia
https://www.readbyqxmd.com/read/27634015/genetic-confirmation-rate-in-clinically-suspected-maturity-onset-diabetes-of-the-young
#2
Amanda J Brahm, Grace Wang, Jian Wang, Adam D McIntyre, Henian Cao, Matthew R Ban, Robert A Hegele
OBJECTIVES: Maturity-onset diabetes of the young (MODY) is the most common form of monogenic diabetes, reportedly accounting for 2% to 5% of all cases of diabetes. In samples from Canadian patients referred for molecular genetic confirmation of a clinically suspected MODY, we determined the prevalence of likely disease-causing DNA variants in known MODY genes. METHODS: Between 1999 and 2015, our centre received requests from colleagues for DNA sequencing of 96 samples from unrelated Canadian patients with clinically suspected MODY...
December 2016: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/27571483/the-genetic-architecture-of-diabetes-in-pregnancy-implications-for-clinical-practice
#3
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
https://www.readbyqxmd.com/read/27404933/-a-rare-cause-of-diabetes-mellitus
#4
Chrysi Koliaki, Birgit Knebel, Fausto Machicao, Michael Roden, Karsten Müssig
UNLABELLED: Medical history and clinical examination: We report on a 52-year-old lean female patient with diabetes mellitus, treated with various glucose-lowering medications including insulin for 6 years. Both her mother and great-grandmother were also diagnosed with diabetes. At admission, she presents with good glycemic control and no signs of diabetes-related comorbidities. LABORATORY TESTS: HbA1c is 6 %. On the basis of positive family history for diabetes, normal body weight and negative antibodies against islet-cell antigens, we perform blood molecular genetic analyses with the suspicion of a genetic form of diabetes...
July 2016: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27289208/analysis-of-mutations-in-the-glucokinase-gene-in-people-clinically-characterized-as-mody2-without-a-family-history-of-diabetes
#5
Ariel Pablo Lopez, Alejandro de Dios, Ignacio Chiesa, Maria Silvia Perez, Gustavo Daniel Frechtel
BACKGROUND: Maturity-onset diabetes of the young 2 (MODY2) is a form of diabetes that is clinically characterized by early age at onset and mild hyperglycemia, and has a low risk of late complications. It is often underdiagnosed due to its mild symptoms. To date, over 600 different GCK/MODY2 mutations have been reported. Despite only a few de novo mutations having been described, recent studies have reported the detection of a higher frequency of this kind of mutation. Therefore, de novo mutations could be more frequent than previously described...
December 0: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/27269892/gck-mutations-in-chinese-mody2-patients-a-family-pedigree-report-and-review-of-chinese-literature
#6
Yu Ping Xiao, Xiao Hua Xu, Yan Lan Fang, LiQiong Jiang, Chun Chen, Li Liang, Chun Lin Wang
BACKGROUND: Maturity-onset diabetes of the young type 2 (MODY2) is caused by mutations in the glucokinase (GCK) gene and is rare in the Chinese population. We report three Chinese families with MODY2 and the sequencing of the GCK gene. METHODS: Three unrelated Chinese families with MODY2 and their pedigrees were investigated. In Family 1, the proband was a 7-year-old girl with impaired fasting glucose (IFG) and impaired glucose tolerance (IGT). Her mother and maternal grandfather had IFG...
August 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27185732/the-drosophila-hnf4-nuclear-receptor-promotes-glucose-stimulated-insulin-secretion-and-mitochondrial-function-in-adults
#7
William E Barry, Carl S Thummel
Although mutations in HNF4A were identified as the cause of Maturity Onset Diabetes of the Young 1 (MODY1) two decades ago, the mechanisms by which this nuclear receptor regulates glucose homeostasis remain unclear. Here we report that loss of Drosophila HNF4 recapitulates hallmark symptoms of MODY1, including adult-onset hyperglycemia, glucose intolerance and impaired glucose-stimulated insulin secretion (GSIS). These defects are linked to a role for dHNF4 in promoting mitochondrial function as well as the expression of Hex-C, a homolog of the MODY2 gene Glucokinase...
2016: ELife
https://www.readbyqxmd.com/read/26324089/incretin-hormones-and-maturity-onset-diabetes-of-the-young-pathophysiological-implications-and-anti-diabetic-treatment-potential
#8
RANDOMIZED CONTROLLED TRIAL
Signe Harring Østoft
Maturity onset diabetes of the young (MODY) designates monogenic forms of non-autoimmune diabetes characterised by autosomal dominant inheritance, non-insulin dependent diabetes at onset and diagnosis often before 25 years of age. MODY constitutes genetically and clinically heterogeneous forms of diabetes. More than 8 different genes are known to cause MODY, among which hepatocyte nuclear factor 1 alpha (HNF1A) (MODY3) and glucokinase (GCK) (MODY2) mutations are the most common. Both forms of MODY are characterised by specific beta cell dysfunction, with patients with HNF1A-diabetes having a reduced insulin secretory capacity, while patients with GCK-diabetes have a glucose-sensing defect, but preserved insulin secretory capacity...
September 2015: Danish Medical Journal
https://www.readbyqxmd.com/read/26208450/characterization-of-two-mody2-mutations-with-different-susceptibility-to-activation
#9
Sara Langer, Christian Platz, Rica Waterstradt, Simone Baltrusch
Glucokinase plays a key role in glucose sensing in pancreatic beta cells and in liver metabolism. Heterozygous inactivating glucokinase mutations cause the autosomal dominantly inherited MODY2 subtype of maturity-onset diabetes of the young. The goal of this study was to elucidate the pathogenicity of the recently described glucokinase mutants L304P and L315H, located in an alpha-helix and connecting region, respectively, at the outer region of the large domain of glucokinase. Both mutants showed wild-type-like cytosolic localization, but faster protein degradation in insulin-secreting MIN6 cells...
September 4, 2015: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/26106223/recognition-and-management-of-individuals-with-hyperglycemia-because-of-a-heterozygous-glucokinase-mutation
#10
REVIEW
Ali J Chakera, Anna M Steele, Anna L Gloyn, Maggie H Shepherd, Beverley Shields, Sian Ellard, Andrew T Hattersley
Glucokinase-maturity-onset diabetes of the young (GCK-MODY), also known as MODY2, is caused by heterozygous inactivating mutations in the GCK gene. GCK gene mutations are present in ∼1 in 1,000 of the population, but most are not diagnosed. They are common causes of MODY (10-60%): persistent incidental childhood hyperglycemia (10-60%) and gestational diabetes mellitus (1-2%). GCK-MODY has a unique pathophysiology and clinical characteristics, so it is best considered as a discrete genetic subgroup. People with GCK-MODY have a defect in glucose sensing; hence, glucose homeostasis is maintained at a higher set point resulting in mild, asymptomatic fasting hyperglycemia (5...
July 2015: Diabetes Care
https://www.readbyqxmd.com/read/25953829/postprandial-incretin-and-islet-hormone-responses-and-dipeptidyl-peptidase-4-enzymatic-activity-in-patients-with-maturity-onset-diabetes-of-the-young
#11
Signe Harring Østoft, Jonatan Ising Bagger, Torben Hansen, Bolette Hartmann, Oluf Pedersen, Jens Juul Holst, Filip Krag Knop, Tina Vilsbøll
OBJECTIVE: The role of the incretin hormones in the pathophysiology of maturity onset diabetes of the young (MODY) is unclear. DESIGN: We studied the postprandial plasma responses of glucagon, incretin hormones (glucagon-like peptide 1 (GLP1) and glucose-dependent insulinotropic polypeptide (GIP)) and dipeptidyl-peptidase 4 (DPP4) enzymatic activity in patients with glucokinase (GCK) diabetes (MODY2) and hepatocyte nuclear factor 1α (HNF1A) diabetes (MODY3) as well as in matched healthy individuals (CTRLs)...
August 2015: European Journal of Endocrinology
https://www.readbyqxmd.com/read/25582477/-maturity-onset-diabetes-of-the-young-2-with-a-novel-mutation-of-glucokinase-gene-in-a-chinese-boy-and-the-clinical-follow-up
#12
Xiuzhen Li, Li Liu, Cuili Liang, Huiying Sheng, Xiaoyuan Zhao
OBJECTIVE: To explore the clinical and gene mutation characteristics of a child with maturity-onset diabetes of the young 2 (MODY2). METHOD: The clinical and follow-up data of 1 patient with MODY2 were reviewed. GCK mutational analysis was performed by PCR and direct sequencing in the proband and his family members. RESULT: The 9 years and 6 months old boy was referred to our department for short stature and mild hyperglycemia. His fasting blood glucose was elevated to 7...
November 2014: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/25467089/clinical-heterogeneity-in-the-same-generation-of-siblings-with-gck-mody-2
#13
Giulio Maltoni, Stefano Zucchini, Anna Lisa Martini, Elena Marasco, Vilma Mantovani, Andrea Pession
We report a peculiar case of a GCK/MODY2 family in whom monogenic and autoimmune diabetes coexist and exert different effects on clinical pictures, passing from mild hyperglycaemia not requiring any treatment through occasional insulin administration to complete insulin dependent type 1 diabetes.
January 2015: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/24735133/genetic-and-bioinformatics-analysis-of-four-novel-gck-missense-variants-detected-in-caucasian-families-with-gck-mody-phenotype
#14
S Costantini, G Malerba, G Contreas, M Corradi, S P Marin Vargas, A Giorgetti, C Maffeis
Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause maturity-onset diabetes of the young (MODY) subtype GCK (GCK-MODY/MODY2). GCK sequencing revealed 16 distinct mutations (13 missense, 1 nonsense, 1 splice site, and 1 frameshift-deletion) co-segregating with hyperglycaemia in 23 GCK-MODY families. Four missense substitutions (c.718A>G/p.Asn240Asp, c.757G>T/p.Val253Phe, c.872A>C/p.Lys291Thr, and c.1151C>T/p.Ala384Val) were novel and a founder effect for the nonsense mutation (c...
May 2015: Clinical Genetics
https://www.readbyqxmd.com/read/24677712/incretin-effect-and-glucagon-responses-to-oral-and-intravenous-glucose-in-patients-with-maturity-onset-diabetes-of-the-young-type-2-and-type-3
#15
Signe H Østoft, Jonatan I Bagger, Torben Hansen, Oluf Pedersen, Jens J Holst, Filip K Knop, Tina Vilsbøll
Maturity-onset diabetes of the young (MODY) is a clinically and genetically heterogeneous subgroup of nonautoimmune diabetes, constituting 1-2% of all diabetes. Because little is known about incretin function in patients with MODY, we studied the incretin effect and hormone responses to oral and intravenous glucose loads in patients with glucokinase (GCK)-diabetes (MODY2) and hepatocyte nuclear factor 1α (HNF1A)-diabetes (MODY3), respectively, and in matched healthy control subjects. Both MODY groups exhibited glucose intolerance after oral glucose (most pronounced in patients with HNF1A-diabetes), but only patients with HNF1A-diabetes had impaired incretin effect and inappropriate glucagon responses to OGTT...
August 2014: Diabetes
https://www.readbyqxmd.com/read/24652732/like-triple-diabetes-as-first-manifestation-of-mody2-in-an-overweight-teenager-with-transient-multiple-antibodies
#16
Anna Wedrychowicz, Malgorzata Stelmach, Krystyna Wyka, Jerzy Starzyk
No abstract text is available yet for this article.
April 2014: Diabetes Care
https://www.readbyqxmd.com/read/24578721/evolution-and-structure-based-computational-strategy-reveals-the-impact-of-deleterious-missense-mutations-on-mody-2-maturity-onset-diabetes-of-the-young-type-2
#17
Doss C Priya George, Chiranjib Chakraborty, S A Syed Haneef, Nagarajan Nagasundaram, Luonan Chen, Hailong Zhu
Heterozygous mutations in the central glycolytic enzyme glucokinase (GCK) can result in an autosomal dominant inherited disease, namely maturity-onset diabetes of the young, type 2 (MODY 2). MODY 2 is characterised by early onset: it usually appears before 25 years of age and presents as a mild form of hyperglycaemia. In recent years, the number of known GCK mutations has markedly increased. As a result, interpreting which mutations cause a disease or confer susceptibility to a disease and characterising these deleterious mutations can be a difficult task in large-scale analyses and may be impossible when using a structural perspective...
2014: Theranostics
https://www.readbyqxmd.com/read/24447076/identification-and-analysis-of-novel-r308k-mutation-in-glucokinase-of-type-2-diabetic-patient-and-its-kinetic-correlation
#18
Nanda Kumar Yellapu, Koteswara Rao Valasani, Santhosh Kumar Pasupuleti, Sowjenya Gopal, Sarma Potukuchi Venkata Gurunadha Krishna, Bhaskar Matcha
Glucokinase (GK) plays a critical role in glucose homeostasis and the mutations in GK gene result in pathogenic complications known as Maturity Onset Diabetes of the Young 2, an autosomal dominant form of diabetic condition. In the present study, GK was purified from human liver tissue and the pure enzyme showed single band in SDS-PAGE with a molecular weight of 50 kDa. The kinetics of pure GK showed enzyme activity of 0.423±0.02 µM glucose-6-phosphate (G6P)/mL/Min and Km value of 6.66±0.02 µM. These values were compared in the liver biopsy of a clinically proven type 2 diabetic patient, where GK kinetics showed decreased enzyme activity of 0...
September 2014: Biotechnology and Applied Biochemistry
https://www.readbyqxmd.com/read/24244580/identification-of-candidate-children-for-maturity-onset-diabetes-of-the-young-type-2-mody2-gene-testing-a-seven-item-clinical-flowchart-7-if
#19
Michele Pinelli, Fabio Acquaviva, Fabrizio Barbetti, Elisabetta Caredda, Sergio Cocozza, Maurizio Delvecchio, Enza Mozzillo, Daniele Pirozzi, Francesco Prisco, Ivana Rabbone, Lucia Sacchetti, Nadia Tinto, Sonia Toni, Stefano Zucchini, Dario Iafusco
MODY2 is the most prevalent monogenic form of diabetes in Italy with an estimated prevalence of about 0.5-1.5%. MODY2 is potentially indistinguishable from other forms of diabetes, however, its identification impacts on patients' quality of life and healthcare resources. Unfortunately, DNA direct sequencing as diagnostic test is not readily accessible and expensive. In addition current guidelines, aiming to establish when the test should be performed, proved a poor detection rate. Aim of this study is to propose a reliable and easy-to-use tool to identify candidate patients for MODY2 genetic testing...
2013: PloS One
https://www.readbyqxmd.com/read/23926378/a-novel-mutation-of-the-glucokinase-gene-in-maturity-onset-diabetes-of-the-young-type-2-mody2
#20
Wakako Jo, Kenji Fujieda, Toshihiro Tajima
No abstract text is available yet for this article.
April 2010: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
keyword
keyword
14240
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"