Novel genes and mutations in patients affected by recurrent pregnancy loss
| العنوان: | Novel genes and mutations in patients affected by recurrent pregnancy loss |
|---|---|
| المؤلفون: | Carlos F. Suárez, Eric Mercier, Manuel A. Patarroyo, Michiko Fukuda, Daniel Vaiman, Jean-Christophe Gris, Paula Quintero-Ronderos, Ronald Gonzalez, Paul Laissue |
| المساهمون: | Caractéristiques féminines des dysfonctions des interfaces cardio-vasculaires (EA 2992), Université Montpellier 1 (UM1)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), National Institute of Advanced Industrial Science and Technology (AIST), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Montpellier (UM)-Université Montpellier 1 (UM1), Centre Hospitalier Régional Universitaire de Nîmes (CHRU Nîmes) |
| المصدر: | PLoS ONE, Vol 12, Iss 10, p e0186149 (2017) PLoS ONE PLoS ONE, Public Library of Science, 2017, 12 (10), pp.e0186149. ⟨10.1371/journal.pone.0186149⟩ Larsen, E.C., Christiansen, O.B., Kolte, A.M., Macklon, N., New insights into mechanisms behind miscarriage (2013) BMC Med, 11, p. 154., https://doi.org/10.1186/1741-7015-11-154Test, https://doi.org/10.1186/1741-7015-11-154Test PMID: 23803387 Repositorio EdocUR-U. Rosario Universidad del Rosario instacron:Universidad del Rosario Repositorio Institucional UDCA Universidad de Ciencias Aplicadas y Ambientales U.D.C.A instacron:Universidad de Ciencias Aplicadas y Ambientales U.D.C.A |
| بيانات النشر: | Public Library of Science (PLoS), 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | Caucásico, Gene Mutation, Secondary, Gene mutation, Pathology and Laboratory Medicine, Gene, Biochemistry, Models, Pregnancy, Fgfr2 Gene, Proteína Mmp1, Thbd Gene, Modificación de ADN, Genetic Stability, Exome sequencing, Clinical Article, Gen Col6A3, Thrombin, High-Throughput Nucleotide Sequencing, Gen F5, Genomics, Col6A3 Gene, Mmp1 Gene, Secuenciación de alto rendimiento, Fibrinogen Alphac, Factor V Deficiency, Ncoa1 Gene, Protein Structure, Genotype, Tro Gene, Adamts1 Gene, Variación genética, Amn gen, Creer gen, Gen Flt1, 03 medical and health sciences, Protein Domains, Gen Mmp9, Enfermedades del aparato genital, Gen Ncoa1, Genetics, Teoría cuántica, Molecular Biology Assays and Analysis Techniques, lcsh:R, Abortion, Biology and Life Sciences, Computational Biology, Proteins, Gen Mmp1, Enfermedades, Fga Gene, Peptide Fragments, Secuenciación de próxima generación, Epas1 Gene, 030104 developmental biology, Quantum Theory, lcsh:Q, Gen Bmp7, Genotipo, Estructura de la proteína, Models, Molecular, Etiology, La expresión génica, Gene Expression, lcsh:Medicine, Bmp7 Gene, Whole Exome Sequencing, Database and Informatics Methods, Gen Fgfr2, Gen Thbd, Medicine and Health Sciences, Gen Cdh11, Multidisciplinary, Gen, Lifr Gene, Deficiencia de Factor V, Deletion Mutation, Phenotype, Cr1 Gene, Función del gen, Factor Xa, Amino Acid Analysis, Thermodynamics, Gen Adams1, Matrix Metalloproteinase 1, Transcriptome Analysis, Adult, Amn Gene, Mmp1 Protein, Gen Ido2, Protein Domain, Secundario, Aborto Recurrente, Pathophysiology, Variabilidad genética, medicine, Fragmento de péptido, Gen Traf3Ip1, Mutación genética, Molecular Model, Genome Analysis, Metabolism, Aborto, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Biología, Disease, Aborto Habitual, El embarazo, 0302 clinical medicine, Fisiopatología, DNA sequencing, Infertilidad, lcsh:Science, Exome, Mutation, 030219 obstetrics & reproductive medicine, Química, Tlr3 Gene, Estromelisina 2, Dominio de proteínas, 3. Good health, Genetic Variability, Fenotipo, Modelo molecular, Human, Next-Generation Sequencing, Abortion, Habitual, Bioinformatics, Secuenciación de nucleótidos de alto rendimiento, Gen Tlr3, Código genético, Gen Tnc, Humans, Protein Interaction Domains and Motifs, Humano, Biology, Secuenciación del exoma completo, Termodinámica, High Throughput Sequencing, Factor V, Molecular, Genetic Variation, Cdh11 Gene, medicine.disease, Habitual, Human genetics, Molecular biology techniques, Sanger Sequencing, Ido2 Gene, Cdh1 Gene, Estabilidad Genética, 0301 basic medicine, Molecular biology, Next Generation Sequencing, Mmp9 Gene, Dna Modification, Estructura secundaria de proteínas, medicine.disease_cause, Protein Structure, Secondary, Fibrinógeno Alphac, Sequencing techniques, Peptide Fragment, Flt1 Gene, Exoma, Fibrinógeno, Protein Secondary Structure, Artículo Clínico, Metabolismo, Dominios y motivos de interacción de proteínas, Traf3Ip1 Gene, Gen lifr, Matriz metaloproteinasa 1, Bioinformática, Protein Interaction Domains And Motifs, Chemistry, Genetic Code, Biología Computacional, Female, Research Article, Fragmentos de péptidos, Gene Sequence, F5 Gene, Gen Cr1, Caucasian, Research and Analysis Methods, Gen Cdh1, Matrix Metalloproteinase 10, Secuencia de genes, Secuenciación de Sangre, Mutación, Gen Fga, Modelos, Fibrinogen, Human Genetics, Reproducción, Genética, Gen Epas1, Recurrent Abortion, Gene Function, Stromelysin 2 |
| الوصف: | Recurrent pregnancy loss is a frequently occurring human infertility-related disease affecting ~1% of women. It has been estimated that the cause remains unexplained in >50% cases which strongly suggests that genetic factors may contribute towards the phenotype. Concerning its molecular aetiology numerous studies have had limited success in identifying the disease’s genetic causes. This might have been due to the fact that hundreds of genes are involved in each physiological step necessary for guaranteeing reproductive success in mammals. In such scenario, next generation sequencing provides a potentially interesting tool for research into recurrent pregnancy loss causative mutations. The present study involved whole-exome sequencing and an innovative bioinformatics analysis, for the first time, in 49 unrelated women affected by recurrent pregnancy loss. We identified 27 coding variants (22 genes) potentially related to the phenotype (41% of patients). The affected genes, which were enriched by potentially deleterious sequence variants, belonged to distinct molecular cascades playing key roles in implantation/pregnancy biology. Using a quantum chemical approach method we established that mutations in MMP-10 and FGA proteins led to substantial energetic modifications suggesting an impact on their functions and/or stability. The next generation sequencing and bioinformatics approaches presented here represent an efficient way to find mutations, having potentially moderate/strong functional effects, associated with recurrent pregnancy loss aetiology. We consider that some of these variants (and genes) represent probable future biomarkers for recurrent pregnancy loss. © 2017 Quintero-Ronderos et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1932-6203 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65f7d0de31680d2d2380888c26429ed7Test http://europepmc.org/articles/PMC5634651?pdf=renderTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....65f7d0de31680d2d2380888c26429ed7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19326203 |
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