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monogenic diabetes

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https://www.readbyqxmd.com/read/28095440/comprehensive-maturity-onset-diabetes-of-the-young-mody-gene-screening-in-pregnant-women-with-diabetes-in-india
#1
Mahesh Doddabelavangala Mruthyunjaya, Aaron Chapla, Asha Hesarghatta Shyamasunder, Deny Varghese, Manika Varshney, Johan Paul, Mercy Inbakumari, Flory Christina, Ron Thomas Varghese, Kurien Anil Kuruvilla, Thomas V Paul, Ruby Jose, Annie Regi, Jessie Lionel, L Jeyaseelan, Jiji Mathew, Nihal Thomas
Pregnant women with diabetes may have underlying beta cell dysfunction due to mutations/rare variants in genes associated with Maturity Onset Diabetes of the Young (MODY). MODY gene screening would reveal those women genetically predisposed and previously unrecognized with a monogenic form of diabetes for further clinical management, family screening and genetic counselling. However, there are minimal data available on MODY gene variants in pregnant women with diabetes from India. In this study, utilizing the Next generation sequencing (NGS) based protocol fifty subjects were screened for variants in a panel of thirteen MODY genes...
2017: PloS One
https://www.readbyqxmd.com/read/28077679/crispr-cas9-gene-repair-of-hematopoietic-stem-cells-from-patients-with-x-linked-chronic-granulomatous-disease
#2
Suk See De Ravin, Linhong Li, Xiaolin Wu, Uimook Choi, Cornell Allen, Sherry Koontz, Janet Lee, Narda Theobald-Whiting, Jessica Chu, Mary Garofalo, Colin Sweeney, Lela Kardava, Susan Moir, Angelia Viley, Pachai Natarajan, Ling Su, Douglas Kuhns, Kol A Zarember, Madhusudan V Peshwa, Harry L Malech
Gene repair of CD34(+) hematopoietic stem and progenitor cells (HSPCs) may avoid problems associated with gene therapy, such as vector-related mutagenesis and dysregulated transgene expression. We used CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9 (CRISPR-associated 9) to repair a mutation in the CYBB gene of CD34(+) HSPCs from patients with the immunodeficiency disorder X-linked chronic granulomatous disease (X-CGD). Sequence-confirmed repair of >20% of HSPCs from X-CGD patients restored the function of NADPH (nicotinamide adenine dinucleotide phosphate) oxidase and superoxide radical production in myeloid cells differentiated from these progenitor cells in vitro...
January 11, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28073829/dutpase-dut-is-mutated-in-a-novel-monogenic-syndrome-with-diabetes-and-bone-marrow-failure
#3
Reinaldo Sousa Dos Santos, Mathilde Daures, Anne Philippi, Sophie Romero, Lorella Marselli, Piero Marchetti, Valérie Senée, Delphine Bacq, Céline Besse, Baz Baz, Laura Marroquí, Sarah Ivanoff, Julien Masliah-Planchon, Marc Nicolino, Jean Soulier, Gérard Socié, Decio L Eizirik, Jean-François Gautier, Cécile Julier
We describe a new syndrome characterized by early onset diabetes mellitus, associated with bone marrow failure affecting mostly the erythrocytic lineage. Using whole exome sequencing in a remotely consanguineous patient from a family with two affected siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G) located in the dUTPase (DUT) gene (NCBI Gene ID: 1854), affecting both the mitochondrial (DUT-M p.Y142C) and the nuclear (DUT-N p.Y54C) isoforms. We found the same homozygous mutation in an unrelated consanguineous patient with diabetes and bone marrow aplasia from a family with two affected siblings, while none of the >60,000 subjects from the Exome Aggregation Consortium (ExAC) was homozygous for this mutation...
January 10, 2017: Diabetes
https://www.readbyqxmd.com/read/28052112/lower-frequency-of-hla-drb1-type-1-diabetes-risk-alleles-in-pediatric-patients-with-mody
#4
Inés Urrutia, Rosa Martínez, Tamara López-Euba, Teresa Velayos, Idoia Martínez de LaPiscina, José Ramón Bilbao, Itxaso Rica, Luis Castaño
OBJECTIVE: The aim of this study was to determine the frequency of susceptible HLA-DRB1 alleles for type 1 diabetes in a cohort of pediatric patients with a confirmed genetic diagnosis of MODY. MATERIALS AND METHODS: 160 families with a proband diagnosed with type 1 diabetes and 74 families with a molecular diagnosis of MODY (61 GCK-MODY and 13 HNF1A-MODY) were categorized at high definition for HLA-DRB1 locus. According to the presence or absence of the susceptible HLA-DRB1 alleles for type 1 diabetes, we considered three different HLA-DRB1 genotypes: 0 risk alleles (no DR3 no DR4); 1 risk allele (DR3 or DR4); 2 risk alleles (DR3 and/or DR4)...
2017: PloS One
https://www.readbyqxmd.com/read/28012402/maturity-onset-diabetes-of-the-young-mody-in-brazil-establishment-of-a-national-registry-and-appraisal-of-available-genetic-and-clinical-data
#5
Fernando M A Giuffrida, Regina S Moises, Leticia S Weinert, Luis E Calliari, Thais Della Manna, Renata P Dotto, Luciana F Franco, Lilian A Caetano, Milena G Teles, Renata Andrade Lima, Crésio Alves, Sergio A Dib, Sandra P Silveiro, Magnus R Dias-da-Silva, Andre F Reis
AIMS: Maturity-Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic forms of diabetes caused by mutations in at least 14 genes, but mostly by mutations in Glucokinase (GCK) and hepatocyte nuclear factor-1 homeobox A (HNF1A). This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data. METHODS: 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report...
October 22, 2016: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28004468/first-2-cases-with-thiamine-responsive-megaloblastic-anemia-in-the-czech-republic-a-rare-form-of-monogenic-diabetes-mellitus-a-novel-mutation-in-the-thiamine-transporter-slc19a2-gene-intron-1-mutation-c-204-2t-g
#6
Renata Pomahačová, Jana Zamboryová, Josef Sýkora, Petra Paterová, Karel Fiklík, Tomáš Votava, Zdeňka Černá, Petr Jehlička, Václav Lád, Ivan Šubrt, Jiří Dort, Eva Dortová
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations have been reported for the gene encoding a plasma membrane thiamine transporter protein (THTR-1). TRMA has been reported in less than 80 cases worldwide. Here, we illustrate 2 female patients with TRMA first diagnosed in the Czech Republic and in central Europe being confirmed by sequencing of the THTR-1 gene SLC19A2. Both subjects are compound heterozygotes with 3 different mutations in the SLC19A2 gene...
December 22, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/27995726/glycemic-control-indicator-levels-at-diagnosis-of-neonatal-diabetes-mellitus-comparison-with-other-types-of-insulin-dependent-diabetes-mellitus
#7
Shigeru Suzuki, Akiko Furuya, Yusuke Tanahashi, Hiroshi Azuma, Yukihiro Bando, Soji Kasayama, Masafumi Koga
BACKGROUND: Neonatal diabetes mellitus (NDM) is a monogenic insulin-dependent diabetes that develops within 6 months of age. The progression of hyperglycemia until diagnosis is unknown. Glycemic control indicators at diagnosis are useful to estimate the extent and duration of hyperglycemia. We recently established that age-adjusted glycated albumin (GA) is a useful indicator of glycemic control, regardless of age. OBJECTIVE: To compare the levels of various glycemic control indicators at diagnosis between NDM and other types of insulin-dependent diabetes mellitus...
December 20, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/27987078/heterogeneous-diagnoses-underlying-radial-ray-anomalies
#8
Rosalba Sevilla-Montoya, Mónica Aguinaga, Alejandro Martínez, Guadalupe Razo, Bertha Molina, Sara Frías, Patricia Grether
OBJECTIVE: To review perinatal Radial Ray Anomaly (RRA) cases born at the National Institute of Perinatology, Mexico, and to reveal the heterogeneous diagnoses of these patients. METHODS: All patients with RRA over a 18 mo period were included; 4/15 were detected prenatally and 11/15 postnatally. Karyotype was performed for all patients with bilateral RRA; and chromosomal breakage analysis, when the karyotype was normal. RESULTS: Fifteen RRA patients were identified: one with trisomy 18, three with an isolated defect, six with monogenic disease, four with a genetic association and one with diabetic embryopathy...
December 17, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27935851/an-analysis-of-the-sequence-of-the-bad-gene-among-patients-with-maturity-onset-diabetes-of-the-young-mody
#9
Karolina Antosik, Piotr Gnyś, Przemysława Jarosz-Chobot, Małgorzata Myśliwiec, Agnieszka Szadkowska, Maciej Małecki, Wojciech Młynarski, Maciej Borowiec
BACKGROUND: Monogenic diabetes is a rare disease caused by single gene mutations. Maturity onset diabetes of the young (MODY) is one of the major forms of monogenic diabetes recognised in the paediatric population. To date, 13 genes have been related to MODY development. The aim of the study was to analyse the sequence of the BCL2-associated agonist of cell death (BAD) gene in patients with clinical suspicion of GCK-MODY, but who were negative for glucokinase (GCK) gene mutations. METHODS: A group of 122 diabetic patients were recruited from the "Polish Registry for Paediatric and Adolescent Diabetes - nationwide genetic screening for monogenic diabetes" project...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27921438/-heterogeneity-of-childhood-diabetes-and-its-therapeutic-implications
#10
Zdeněk Šumník, Štěpánka Průhová, Ondřej Cinek
The prevalence of diabetes in Czech children is 1 : 500-1 000. Its incidence rose about threefold over the past 25 years. Type 1 diabetes is the prevailing form of diabetes in childhood, but also monogenic forms are frequently diagnosed. The occurrence of type 2 diabetes is still marginal in Czech children, with a relative proportion of less than 1 % of all diabetic children. Etiological diagnosis is the basic prerequisite of an effective diabetes treatment. In this review we present novel aspects on etiology and therapy of diabetes diagnosed in childhood and adolescence...
2016: Vnitr̆ní Lékar̆ství
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
#11
Nathan Lawlor, Joshy George, Mohan Bolisetty, Romy Kursawe, Lili Sun, V Sivakamasundari, 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 (T2D) diabetes. Cellular heterogeneity impedes precise understanding of the molecular components of each islet cell type that govern islet (dys)function, particularly the less abundant delta and gamma/pancreatic polypeptide (PP) cells...
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
#12
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
#13
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
#14
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
#15
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...
December 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
#16
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
#17
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
#18
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
#19
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
#20
REVIEW
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...
January 2017: Cellular and Molecular Life Sciences: CMLS
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