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https://www.readbyqxmd.com/read/27864352/single-cell-transcriptomes-identify-human-islet-cell-signatures-and-reveal-cell-type-specific-expression-changes-in-type-2-diabetes
#1
Nathan Lawlor, Joshy George, Mohan Bolisetty, Romy Kursawe, Lili Sun, Sivakamasundari V, Ina Kycia, Paul Robson, Michael L Stitzel
Blood glucose levels are tightly controlled by the coordinated action of at least four cell types constituting pancreatic islets. Changes in the proportion and/or function of these cells are associated with genetic and molecular pathophysiology of monogenic, type 1, and type 2 diabetes (T2D). Cellular heterogeneity impedes precise understanding of the molecular components of each islet cell type that govern islet dysfunction, particularly the less abundant delta and gamma/pancreatic polypeptide (PP) cells. Here, we report single cell transcriptomes for 638 cells from non-diabetic (ND) and T2D human islet samples...
November 18, 2016: Genome Research
https://www.readbyqxmd.com/read/27852188/a-review-of-maturity-onset-diabetes-of-the-young-mody-and-challenges-in-the-management-of-glucokinase-mody
#2
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/27849623/successful-transition-to-sulfonylurea-therapy-in-two-iraqi-siblings-with-neonatal-diabetes-mellitus-and-idend-syndrome-due-to-abcc8-mutation
#3
Elif Ozsu, Dinesh Giri, Gulcan Seymen Karabulut, Senthil Senniappan
Neonatal diabetes is a rare form of monogenic diabetes characterised by persistent hyperglycaemia during the first 6-9 months of age. About half of the cases of neonatal diabetes are transient forms resulting from mutations in the genes in the imprinted region of chromosome 6q24 and the other half are permanent forms. Activating mutations in the potassium ATP (KATP) channels encoded by the genes KCNJ11 and ABCC8 are responsible for the majority of permanent neonatal diabetes mellitus (PNDM). Mutations in KATP channels can be associated with Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27835940/whole-genome-sequence-analysis-of-the-tallyho-jng-mouse
#4
James Denvir, Goran Boskovic, Jun Fan, Donald A Primerano, Jacaline K Parkman, Jung Han Kim
BACKGROUND: The TALLYHO/Jng (TH) mouse is a polygenic model for obesity and type 2 diabetes first described in the literature in 2001. The origin of the TH strain is an outbred colony of the Theiler Original strain and mice derived from this source were selectively bred for male hyperglycemia establishing an inbred strain at The Jackson Laboratory. TH mice manifest many of the disease phenotypes observed in human obesity and type 2 diabetes. RESULTS: We sequenced the whole genome of TH mice maintained at Marshall University to a depth of approximately 64...
November 11, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27810688/clinical-whole-exome-sequencing-in-early-onset-diabetes-patients
#5
Soo Heon Kwak, Chan-Hyeon Jung, Chang Ho Ahn, Jungsun Park, Jeesoo Chae, Hye Seung Jung, Young Min Cho, Dae Ho Lee, Jong-Il Kim, Kyong Soo Park
AIMS: There could be an overlap of monogenic diabetes and early onset type 2 diabetes in those who are diagnosed before age of 30years. Genetic diagnosis in these patients might improve the quality of care. A limited number of studies have used whole exome sequencing (WES) in Asian patients with early onset diabetes, and the clinical utility of WES is largely unknown. METHODS: We performed whole exome capture and massive parallel sequencing in 28 patients with early onset diabetes...
October 15, 2016: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/27807935/type-2-diabetes-in-a-5-year-old-and-single-center-experience-of-type-2-diabetes-in-youth-under-10
#6
Jessica Hutchins, Rose Ann Barajas, Daniel Hale, Elia Escaname, Jane Lynch
The worrisome rise in pediatric type 2 diabetes (T2DM) is most prevalent among minority ethnic/racial populations. Typically, T2DM occurs during puberty in high risk obese adolescents with evidence of insulin resistance. Screening for T2DM in obese youth can be a daunting task for pediatricians and differentiating between pediatric T1DM and T2DM in obese youth can be challenging for pediatric endocrinologists. There is very limited data regarding the prevalence of T2DM among youth < 10 years of age...
November 3, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/27807544/qualitative-parameters-of-the-colonic-flora-in-patients-with-hnf1a-mody-are-different-from-those-observed-in-type-2-diabetes-mellitus
#7
Sandra Mrozinska, Piotr Radkowski, Tomasz Gosiewski, Magdalena Szopa, Malgorzata Bulanda, Agnieszka H Ludwig-Galezowska, Iwona Morawska, Agnieszka Sroka-Oleksiak, Bartlomiej Matejko, Przemyslaw Kapusta, Dominika Salamon, Maciej T Malecki, Pawel Wolkow, Tomasz Klupa
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 the investigation was to compare the qualitative parameters of the colonic flora in patients with HNF1A-MODY and T2DM and healthy individuals...
2016: Journal of Diabetes Research
https://www.readbyqxmd.com/read/27749844/prospective-functional-classification-of-all-possible-missense-variants-in-pparg
#8
Amit R Majithia, Ben Tsuda, Maura Agostini, Keerthana Gnanapradeepan, Robert Rice, Gina Peloso, Kashyap A Patel, Xiaolan Zhang, Marjoleine F Broekema, Nick Patterson, Marc Duby, Ted Sharpe, Eric Kalkhoven, Evan D Rosen, Inês Barroso, Sian Ellard, Sekar Kathiresan, Stephen O'Rahilly, Krishna Chatterjee, Jose C Florez, Tarjei Mikkelsen, David B Savage, David Altshuler
Clinical exome sequencing routinely identifies missense variants in disease-related genes, but functional characterization is rarely undertaken, leading to diagnostic uncertainty. For example, mutations in PPARG cause Mendelian lipodystrophy and increase risk of type 2 diabetes (T2D). Although approximately 1 in 500 people harbor missense variants in PPARG, most are of unknown consequence. To prospectively characterize PPARγ variants, we used highly parallel oligonucleotide synthesis to construct a library encoding all 9,595 possible single-amino acid substitutions...
December 2016: Nature Genetics
https://www.readbyqxmd.com/read/27716753/mitochondrial-disease-and-endocrine-dysfunction
#9
REVIEW
Jasmine Chow, Joyeeta Rahman, John C Achermann, Mehul T Dattani, Shamima Rahman
Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis occurs in these organelles and they provide energy in the form of ATP for hormone production and trafficking. Mitochondrial diseases are multisystem disorders that feature defective oxidative phosphorylation, and are characterized by enormous clinical, biochemical and genetic heterogeneity. To date, mitochondrial diseases have been found to result from >250 monogenic defects encoded across two genomes: the nuclear genome and the ancient circular mitochondrial genome located within mitochondria themselves...
October 7, 2016: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/27709245/cystic-fibrosis-a-clinical-view
#10
Carlo Castellani, Baroukh M Assael
Cystic fibrosis (CF), a monogenic disease caused by mutations in the CFTR gene on chromosome 7, is complex and greatly variable in clinical expression. Airways, pancreas, male genital system, intestine, liver, bone, and kidney are involved. The lack of CFTR or its impaired function causes fat malabsorption and chronic pulmonary infections leading to bronchiectasis and progressive lung damage. Previously considered lethal in infancy and childhood, CF has now attained median survivals of 50 years of age, mainly thanks to the early diagnosis through neonatal screening, recognition of mild forms, and an aggressive therapeutic attitude...
October 5, 2016: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/27683652/atypical-manifestation-of-lps-responsive-beige-like-anchor-deficiency-syndrome-as-an-autoimmune-endocrine-disorder-without-enteropathy-and-immunodeficiency
#11
Shahrzad Bakhtiar, Frank Ruemmele, Fabienne Charbit-Henrion, Eva Lévy, Frédéric Rieux-Laucat, Nadine Cerf-Bensussan, Peter Bader, Ulrich Paetow
Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type 1 diabetes mellitus, hypothyroidism, adrenal insufficiency, and vitiligo. Lipopolysaccharide (LPS)-responsive beige-like anchor protein (LRBA) deficiency was described in 2012 as a novel primary immunodeficiency, predominantly causing immune dysregulation and early onset enteropathy. We describe the heterogeneous clinical course of LRBA deficiency in two siblings, mimicking an autoimmune polyendocrine disorder in one of them in presence of the same underlying genetic mutation...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27681078/decreases-in-gap-junction-coupling-recovers-ca2-and-insulin-secretion-in-neonatal-diabetes-mellitus-dependent-on-beta-cell-heterogeneity-and-noise
#12
Aleena M Notary, Matthew J Westacott, Thomas H Hraha, Marina Pozzoli, Richard K P Benninger
Diabetes is caused by dysfunction to β-cells in the islets of Langerhans, disrupting insulin secretion and glucose homeostasis. Gap junction-mediated electrical coupling between β-cells in the islet plays a major role in coordinating a pulsatile secretory response at elevated glucose and suppressing insulin secretion at basal glucose. Previously, we demonstrated that a critical number of inexcitable cells can rapidly suppress the overall islet response, as a result of gap junction coupling. This was demonstrated in a murine model of Neonatal Diabetes Mellitus (NDM) involving expression of ATP-insensitive KATP channels, and by a multi-cellular computational model of islet electrical activity...
September 2016: PLoS Computational Biology
https://www.readbyqxmd.com/read/27667715/a-suppressor-locus-for-mody3-diabetes
#13
Miguel A Garcia-Gonzalez, Claire Carette, Alessia Bagattin, Magali Chiral, Munevver Parla Makinistoglu, Serge Garbay, Géraldine Prévost, Cécile Madaras, Yann Hérault, Michel Leibovici, Marco Pontoglio
Maturity Onset Diabetes of the Young type 3 (MODY3), linked to mutations in the transcription factor HNF1A, is the most prevalent form of monogenic diabetes mellitus. HNF1alpha-deficiency leads to defective insulin secretion via a molecular mechanism that is still not completely understood. Moreover, in MODY3 patients the severity of insulin secretion can be extremely variable even in the same kindred, indicating that modifier genes may control the onset of the disease. With the use of a mouse model for HNF1alpha-deficiency, we show here that specific genetic backgrounds (C3H and CBA) carry a powerful genetic suppressor of diabetes...
September 26, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27634015/genetic-confirmation-rate-in-clinically-suspected-maturity-onset-diabetes-of-the-young
#14
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/27615128/the-role-of-hepatocyte-nuclear-factor-1%C3%AE-in-disease-and-development
#15
REVIEW
R El-Khairi, L Vallier
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1β (HNF1B) result in a multi-system disorder. HNF1B was initially discovered as a monogenic diabetes gene; however, renal cysts are the most frequently detected feature. Other clinical features include pancreatic hypoplasia and exocrine insufficiency, genital tract malformations, abnormal liver function, cholestasis and early-onset gout. Heterozygous mutations and complete gene deletions in HNF1B each account for approximately 50% of all cases of HNF1B-associated disease and may show autosomal dominant inheritance or arise spontaneously...
September 2016: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/27571483/the-genetic-architecture-of-diabetes-in-pregnancy-implications-for-clinical-practice
#16
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/27555491/adhd-learning-difficulties-and-sleep-disturbances-associated-with-kcnj11-related-neonatal-diabetes
#17
Karen A Landmeier, Monica Lanning, David Carmody, Siri Atma W Greeley, Michael E Msall
OBJECTIVES: Mutations in KCNJ11 are the most common cause of permanent neonatal diabetes mellitus (NDM). Approximately 25% of patients have obvious neurological dysfunction, but whether milder related problems might be more common has been unclear. We sought to assess the prevalence of parental concerns about learning, behavior, attention deficit hyperactivity disorder (ADHD), social competency, and sleep in subjects with KCNJ11-related NDM compared to unaffected sibling controls. STUDY DESIGN: Subjects or their guardians in the University of Chicago Monogenic Diabetes Registry completed a survey examining learning, behavior, ADHD and sleep...
August 24, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/27554474/systematic-functional-characterization-of-candidate-causal-genes-for-type-2-diabetes-risk-variants
#18
Soren K Thomsen, Alessandro Ceroni, Martijn van de Bunt, Carla Burrows, Amy Barrett, Raphael Scharfmann, Daniel Ebner, Mark I McCarthy, Anna L Gloyn
Most genetic association signals for type 2 diabetes risk are located in non-coding regions of the genome, hindering translation into molecular mechanisms. Physiological studies have shown a majority of disease-associated variants to exert their effects through pancreatic islet dysfunction. Systematically characterizing the role of regional transcripts in β-cell function could identify the underlying disease-causing genes, but large-scale studies in human cellular models have previously been impractical. We developed a robust and scalable strategy based on arrayed gene silencing in the human β-cell line EndoC-βH1...
August 23, 2016: Diabetes
https://www.readbyqxmd.com/read/27540106/prematurity-and-genetic-testing-for-neonatal-diabetes
#19
Rachel E J Besser, Sarah E Flanagan, Deborah G J Mackay, I K Temple, Maggie H Shepherd, Beverley M Shields, Sian Ellard, Andrew T Hattersley
BACKGROUND: Hyperglycemia in premature infants is usually thought to reflect inadequate pancreatic development rather than monogenic neonatal diabetes. No studies, to our knowledge, have investigated the prevalence of monogenic forms of diabetes in preterm infants. METHODS: We studied 750 patients with diabetes diagnosed before 6 months of age. We compared the genetic etiology and clinical characteristics of 146 preterm patients born <37 weeks and compared them with 604 born ≥37 weeks...
September 2016: Pediatrics
https://www.readbyqxmd.com/read/27531051/muscle-redox-disturbances-and-oxidative-stress-as-pathomechanisms-and-therapeutic-targets-in-early-onset-myopathies
#20
Maryline Moulin, Ana Ferreiro
Because of their contractile activity and their high oxygen consumption and metabolic rate, skeletal muscles continually produce moderate levels of reactive oxygen and nitrogen species (ROS/RNS), which increase during exercise and are buffered by multiple antioxidant systems to maintain redox homeostasis. Imbalance between ROS/RNS production and elimination results in oxidative stress (OxS), which has been implicated in aging and in numerous human diseases, including cancer, diabetes or age-related muscle loss (sarcopenia)...
August 12, 2016: Seminars in Cell & Developmental Biology
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