Letteratura scientifica selezionata sul tema "Diabète monogénique"
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Articoli di riviste sul tema "Diabète monogénique":
Timsit, J., C. Carette, C. Saint-Martin, D. Dubois-Laforgue e C. Bellanné-Chantelot. "Quand et pourquoi rechercher un diabète monogénique ?" Médecine des Maladies Métaboliques 3, n. 4 (settembre 2009): 448–53. http://dx.doi.org/10.1016/s1957-2557(09)72415-0.
Meas, T., H. Cave, M. Polak, J. Bitu, M. Laloi-Michelin, M. Virally e P. J. Guillausseau. "P133 - Épilepsie puis diabète révélant à l’âge adulte une hypoglycémie de l’enfance : penser à un diabète monogénique". Diabetes & Metabolism 37, n. 1 (marzo 2011): A66. http://dx.doi.org/10.1016/s1262-3636(11)70759-5.
Iafrate-Luterbacher, Fanny, Mirjam Dirlewanger, Michael Hauschild, Valérie M. Schwitzgebel e Kanetee Busiah. "Diabète monogénique : pionnier dans la prise en charge par la médecine de précision". Revue Médicale Suisse 19, n. 815 (2023): 362–67. http://dx.doi.org/10.53738/revmed.2023.19.815.362.
Polak, Michel, H. Cavé, K. Busiah, A. Bonnefond, A. Simon, I. Flechtner, A. Dechaume et al. "Diabète néonatal (monogénique de la très petite enfance). État des travaux du Réseau Français d’étude du diabète néonatal." Diabetes & Metabolism 38 (marzo 2012): A130. http://dx.doi.org/10.1016/s1262-3636(12)71525-2.
Neve, B., A. Ortalli, A. Leloire, O. Feraud, G. Pasquetti, M. Vaxillaire, A. Bonnefond, A. Bennaceur-Griscelli, J. Kerr-Conte e P. Froguel. "P202 Utilisation des cellules souches somatiques pour modéliser le diabète monogénique lié aux anomalies du canal potassique de KCNJ11". Diabetes & Metabolism 41 (marzo 2015): A84. http://dx.doi.org/10.1016/s1262-3636(15)30315-3.
Beltrand, Jacques. "L’effet métabolique bénéfique des sulfonylurés persiste à long terme chez les patients atteints de diabète monogénique lié une mutation des canaux potassiques (SUR1)". Diabetes & Metabolism 43, n. 2 (marzo 2017): A17. http://dx.doi.org/10.1016/s1262-3636(17)30154-4.
Saint-Martin, C., e C. Bellanné-Chantelot. "Problématiques du diagnostic des diabètes monogéniques". Médecine des Maladies Métaboliques 12, n. 2 (marzo 2018): 161–66. http://dx.doi.org/10.1016/s1957-2557(18)30041-5.
Moad, R., N. Kesri, F. Hasbellaoui e M. Semrouni. "Hypercholestérolémie monogénique : à propos de trois familles". Annales d'Endocrinologie 74, n. 4 (settembre 2013): 452. http://dx.doi.org/10.1016/j.ando.2013.07.768.
Mouzouri, H., H. Baizri, H. Qacif, Y. Sekkach, G. Belmejdoub, F. Rkiouak, D. Ghafir, V. Ohayoun e M. I. Archane. "P142 Hypercholestérolémie familiale monogénique. À propos d’une famille". Diabetes & Metabolism 34 (marzo 2008): H81—H82. http://dx.doi.org/10.1016/s1262-3636(08)73054-4.
Valéro, R., S. Béliard, V. Paquis-Fluckinger e B. Vialettes. "Les diabètes monogéniques : une dimension à intégrer dans la pratique clinique des diabétologues". Annales d'Endocrinologie 66, n. 3 (giugno 2005): 279–83. http://dx.doi.org/10.1016/s0003-4266(05)81762-7.
Tesi sul tema "Diabète monogénique":
Daures, Mathilde. "Identification de gènes à contribution monogénique dans le diabète : Approches bio-informatiques". Sorbonne Paris Cité, 2016. http://www.theses.fr/2016USPCC049.
Diabetes mellitus represents an heterogeneous group of metabolic disorders characterized by a dysfunction of glycaemia regulation. Common forms are type 1 (T1D) and type 2 diabetes. A large number of susceptibility loci associated with T1D have been identified by genetic studies, however those loci only explain a small part of the genetic contribution to T1D. Our hypothesis is that part of this missing heritability may be explained by genes with a monogenic effect. To identify these rare monogenic forms, my PhD project strategy is to study selected individuals (patients and familles enriched in monogenic forms), integrating whole exome sequencing and linkage analysis results together with available clinical data to identify the responsible genes and mutations. I developped a software to analyze human exome sequencing data. To facilitate the identification of mutations and genes causing monogenic diseases (or with a strong genetic effect) : filtering variants to identify the ones fitting the genetic model, recovering additional information on these variants from public and private databases, computing a prioritization score for each remaining variant and comparing variants between individuals or groups of individuals. This software is available as open-source code We used this software to analyze exome sequencing data from 211 selected diabetic patients. With this analysis we identified several causal mutations in genes already known as monogenic diabetes genes and in several new genes, that are currently at different stages of genetic and functional validation in our laboratory
Duchatelet, Sabine. "Recherche de gènes de prédiposition au diabète de type 1". Paris 6, 2006. http://www.theses.fr/2006PA066254.
Type 1 diabetes (T1D) is an autoimmune multifactorial disease. We used 3 strategies to find T1D susceptibility genes : the study of IDDM4 locus previously mapped on chromosome 11q13 by linkage, the search for genes responsible for monogenic syndromes with diabetes, and candidate gene approach. The study of IDDM4 locus led to identify variants associated with T1D, and to precisely bound the critical region. Our genetic studies, supplemented by functional studies, will allow us to detect the susceptibility gene at IDDM4 locus. Besides, we identified PTHR1 and GLIS3 genes responsible respectively for Eiken and NDH syndromes. We tested PTHR1 as a candidate gene, and a functional polymorphism in FCRL3 gene, reported as associated with several other autoimmune diseases, in the susceptibility to T1D. We did not detect significant association. Identification of T1D susceptibility genes will provide a better understanding of pathological processes involved in the development of the disease
Le, Collen Lauriane. "Médecine de précision du diabète de type 2 et des obésités génétiques". Electronic Thesis or Diss., Université de Lille (2022-....), 2023. http://www.theses.fr/2023ULILS042.
This scientific thesis delves deeply into critical health issues, specifically diabetes, obesity, and rare familial lipodystrophies. These health concerns hold immense importance due to their substantial medical and financial implications, impacting individuals, healthcare systems, and national economies. The central aim of this research was to harness the capabilities of next-generation sequencing (NGS), such as exome sequencing, to detect genetic mutations within genes already associated with these conditions in diagnostically challenging patients. It is now established that up to 2% of cases of type 2 diabetes can be attributed to pathogenic variants in genes related to Maturity-Onset Diabetes of the Young (MODY). This study sought to enhance the diagnostic process and optimize therapeutic management for these complex conditions while demonstrating the effectiveness of the sequencing approach in comprehensive disease management.In a first case, we showcased the significance of this approach by examining a patient with an atypical syndromic form of diabetes. Through in-depth genetic analysis using NGS, we identified a pathogenic heterozygous variant in the WFS1 gene inherited from the diabetic father. This discovery had a profound impact on the patient's treatment, highlighting the effectiveness of GLP1 analog therapy in optimizing diabetes management. Furthermore, our study investigated the impact of a de novo deletion in 16q24.2, which had the potential to affect the regulation of a neighboring gene, FOXC2, implicated in lymphedema-distichiasis syndrome. This case also raised questions about neurodevelopmental disorders, potentially linked to this deletion and a variant located in USP9X inherited from the patient's mother. These results underscore the critical importance of precise diagnosis in selecting appropriate treatments.In a second article, our research focused on the PDX1 gene, responsible for MODY 4, by analyzing heterozygous carriers of pathogenic variants. Our investigations revealed complete penetrance of diabetes, an increase in body mass index, and an elevated risk of pancreatic insufficiency in these individuals. Once again, the judicious use of GLP1 analogs proved beneficial in optimizing glycemic control.Next, we explored the case of a patient suffering from morbid obesity, presenting with combined pituitary deficiency and composite heterozygosity in POMC. This observation challenged the previous notion that heterozygosity in POMC could cause monogenic obesity. This reconsideration raises crucial questions about the effectiveness of targeted treatment with MC4R agonists in POMC heterozygotes, posing significant financial challenges for its use in this indication.Finally, we studied a large family with a severe metabolic syndrome associated with partial lipodystrophy. Genetic analysis revealed a variant in the ZMPSTE24 gene, previously identified in the same geographic region, raising the question of a founder variant. However, the contribution of this heterozygous variant to partial lipodystrophy remains to be confirmed, necessitating further studies to definitively establish its role.In conclusion, this thesis has highlighted the remarkable efficacy of next-generation sequencing in elucidating complex cases of atypical diabetes and obesity, shedding light on monogenic forms of these conditions. Moreover, this research expanded its investigations to the broader population through comprehensive literature reviews and analysis of various databases, including the Human Gene Mutation Database, RaDIO, and UK Biobank. We hope that these compelling results will encourage wider adoption of genetic sequencing, paving the way for increased customization of treatments based on patients' genotypes in the near future
Sanyoura, May. "Contributions monogéniques dans le diabète insulino-dépendant au Liban". Paris 7, 2013. http://www.theses.fr/2013PA077112.
Diabetes mellitus represents a heterogeneous group of metabolic disorders characterized by sustained high blood glucose concentrations. Disease etiology is still poorly understood but involves both genetic and environmental factors. The main aim of this thesis was to identify and study genes responsible for monogenic forms of juvenile-onset insulin-dependent diabetes (JOD) in the Lebanese population. Due to the high rate of consanguinity and intra-population endogamy, the Lebanese population is particularly well suited to address the question of the responsibility of monogenic contribution to JOD. Using a family-based genetic study, we identified evidence of linkage near the WFS1 gene, responsible for Wolfram syndrome. We identified one frameshift mutation, the WFS1LIB mutation, which was associated with a delayed onset of optic atrophy (OA). The delayed onset of OA in WFS1LIB homozygous patients was family dependent and suggested the role of a modifier variant. Our results suggest that one common variant located in the 5' regulatory region of the WFS1 gene is associated with delayed onset of OA and decreased expression of WFSL After excluding ail genetically explained families, we identified evidence of linkage on chromosome 11. We selected the most plausible candidate gene and identified 3 mutations. We then used a siRNA-mediated knockdown approach in dispersed islets, INS-1E, and purified bêta cells and showed that gene deficiency resulted in increased cell death and decreased insulin expression. The last study concerns the genetic investigation of a diabetic Lebanese patient initially diagnosed as Wolfram Syndrome. Using linkage study and sequencing, we selected ALMS1, responsible for Alström Syndrome, in which we identified a novel splice mutation. In conclusion, monogenic forms of diabetes are likely to represent a significant subset of JOD cases, generally diagnosed as T1D, particularly in highly consanguineous populations such as Lebanon
Carette, Claire. "Identification de loci suppresseurs du phénotype diabétique lié à la déficience en Hnf1a chez la souris". Thesis, Paris 5, 2014. http://www.theses.fr/2014PA05T044/document.
Hnf1a-/- mice exhibit a severe diabetes mellitus due to a drastic defect in insulin secretion that closely resembles to the phenotype presented by MODY3 (Maturity Onset Diabetes of the Young type 3) patients. The molecular mechanisms responsible for the diabetes are still poorly understood. Here we show that congenic mice of different genetic backgrounds carrying the same Hnf1a deletion presented with drastically different phenotypes. Hnf1a-deficiency led to severe diabetes when introgressed into 129, B6, BALB/C or A/J genetic backgrounds (sensitive strains). Conversely, when the same null mutation was introgressed into CBA or C3H genetic backgrounds (resistant strains), the diabetic phenotype was suppressed. In sensitive strains, pancreatic islets did not increase in size compared to control animals and on the other hand average islet-size growth was normal in resistant strains. The genetic variations naturally present in these two resistant strains acted in a dominant way and a genome scan analysis led to the identification of a major suppressor locus on chromosome 3 that accounted for more than 60% of the variance of glycemia. The major locus contained 11 genes with non-synonymous SNPs changes and it interacted with 5 additional ancillary loci on chromosomes 4, 11 and 18. Our study demonstrated that the naturally occurring genetic variation present in distinct mouse laboratory strains is able to suppress the phenotype of a monogenic disorder
Philippe, Julien. "Étude des formes monogéniques de diabète de type 2 et d’obésité par le séquençage de nouvelle génération". Thesis, Lille 2, 2014. http://www.theses.fr/2014LIL2S049/document.
Diabetes and obesity have reached such proportions worldwide we are talking about pandemic. Both diseases are a major cause of mortality and multiple complications. Medical and financial issues are for both diseases a major public health problem. Two groups of factors contribute to these two diseases: environment, and genetics on which this thesis is based. This work focused on rare and monogenic forms which are extreme forms of type 2 diabetes and obesity.These forms are far from being fully understood. My project focused on the use of next generation sequencing (NGS) to identify more optimally, compared to conventional Sanger sequencing, mutations in already known genes among new patients in our cohort for diagnostic purposes. The second objective was to use NGS to discover new loci associated with new signaling pathways involved in the pathophysiology of diabetes and obesity.The first approach uses a liquid-phase hybridization technique and focuses on 34 genes associated with monogenic and/or polygenic obesity. The screening was carried out on 201 people in 13 families for which the cause of obesity is unknown. This approach led to the identification of a mutation in a known gene of obesity: PCSK1. This mutation is causal because it leads to a stop codon at the beginning of the protein and is present only in obese individuals. Additionally, functional studies have demonstrated partial inhibition of PC1/3 by the truncated protein and the possible impact on the processing and secretion of this enzyme. This study has been published published in the "International Journal of Obesity" newspaper.The second approach is based on a PCR amplification technique in lipid microdroplets developed by Raindance. The first test is to re-identify the causal mutations of diabetes and/or obesity in 40 patients. This approach has yielded satisfactory results because for a large majority of patients, the causative mutations have been identified again. Only one patient was unable to be reconfirmed because current bioinformatics tools are limited in the detection of complex indels. Of the 39 patients identified, 3 of them are potential carriers of several causative mutations. This technique could be considered in the clinical field because it allows a multigene approach by providing a rapid diagnosis, cheaper and with a quality similar to the gold standard Sanger sequencing. For us, the purpose of this technique is a fast and optimal clinical diagnosis in order to identify unsolved cases, which are candidates for exome sequencing. This second study was published in "Diabetes Care" journal.The third approach involves whole exome sequencing (WES) in 4 individuals where the whole family was previously tested negative for all known genes of diabetes. This approach led to the discovery of a thirteen MODY gene, KCNJ11, and confirms the broad phenotypic spectrum that goes from neonatal diabetes to MODY depending on the mutations. The major difficulty with this technique is filtering variants in order to get a single causal mutation (or possibly several on the same gene) to identify new MODY genes. The strategy we used combined both a bioinformatics filter for example with filters on family cosegregation and on SNP databases and a biological filter, with the use of a technique for high-throughput genotyping. This pioneering study in the use of NGS to identify new genes of MODY has been published in "PLoS ONE".In conclusion, this work took advantage of technological advances such as capture, targeted sequencing and NGS to elucidate and to improve the screening of monogenic forms of diabetes and obesity. This improved understanding of the molecular mechanisms may lead to the development of better treatments like personalized medicine. We hope to see direct improvements for patients in the near future, such as a more accurate, faster and more comprehensive molecular