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Article ; Online: Role of insulin resistance on fertility - Focus on polycystic ovary syndrome.

Vatier, Camille / Christin-Maitre, Sophie / Vigouroux, Corinne

2022 Volume 83, Issue 3, Page(s) 199–202

Abstract: Several lines of evidence show that gonadal functions and insulin sensitivity display multifaceted relationships, which extend far beyond the well-known association between polycystic ovary syndrome (PCOS), obesity, and metabolic syndrome. In this brief ... ...

Abstract	Several lines of evidence show that gonadal functions and insulin sensitivity display multifaceted relationships, which extend far beyond the well-known association between polycystic ovary syndrome (PCOS), obesity, and metabolic syndrome. In this brief review, we will summarize the main findings showing the pathophysiological role of insulin resistance in impairing reproductive functions. Extreme phenotypes of severe insulin resistance, due to primary defects in insulin receptor or to lipodystrophy syndromes, provide unique opportunities for the modeling of interactions between insulin signaling and ovarian endocrine functions. In addition, recent studies further suggest that common forms of dysfunctional adiposity, as well as altered production of adipokines, could underlie important pathophysiological links between metabolic syndrome and infertility.
MeSH term(s)	Female ; Fertility ; Humans ; Insulin/metabolism ; Insulin Resistance/physiology ; Metabolic Syndrome ; Obesity/complications ; Polycystic Ovary Syndrome/complications
Chemical Substances	Insulin
Language	English
Publishing date	2022-04-15
Publishing country	France
Document type	Journal Article ; Review
ZDB-ID	299-9
ISSN	2213-3941 ; 0003-4266
ISSN (online)	2213-3941
ISSN	0003-4266
DOI	10.1016/j.ando.2022.04.004
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Article ; Online: Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics.

Jéru, Isabelle / Nabil, Amira / El-Makkawy, Gehad / Lascols, Olivier / Vigouroux, Corinne / Abdalla, Ebtesam

Genes

2021 Volume 12, Issue 10

Abstract: Pathogenic variants in ... ...

Abstract	Pathogenic variants in the
MeSH term(s)	Acro-Osteolysis/genetics ; Acro-Osteolysis/pathology ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Lamin Type A/genetics ; Lipodystrophy/genetics ; Lipodystrophy/pathology ; Male ; Mandible/abnormalities ; Mandible/pathology ; Mutation, Missense ; Phenotype
Chemical Substances	LMNA protein, human ; Lamin Type A
Language	English
Publishing date	2021-09-26
Publishing country	Switzerland
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12101508
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Article ; Online: Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.

Perge, Kevin / Capel, Emilie / Villanueva, Carine / Gautheron, Jérémie / Diallo, Safiatou / Auclair, Martine / Rondeau, Sophie / Morichon, Romain / Brioude, Frédéric / Jéru, Isabelle / Rossi, Massimiliamo / Nicolino, Marc / Vigouroux, Corinne

European journal of endocrinology

2024 Volume 190, Issue 2, Page(s) 151–164

Abstract: Objective: SOFT syndrome (MIM#614813), denoting Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis, is a rare primordial dwarfism syndrome caused by biallelic variants in POC1A, encoding a centriolar protein. SOFT syndrome, ... ...

Abstract	Objective: SOFT syndrome (MIM#614813), denoting Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis, is a rare primordial dwarfism syndrome caused by biallelic variants in POC1A, encoding a centriolar protein. SOFT syndrome, characterized by severe growth failure of prenatal onset and dysmorphic features, was recently associated with insulin resistance. This study aims to further explore its endocrinological features and pathophysiological mechanisms. Design/methods: We present clinical, biochemical, and genetic features of 2 unrelated patients carrying biallelic pathogenic POC1A variants. Cellular models of the disease were generated using patients' fibroblasts and POC1A-deleted human adipose stem cells. Results: Both patients present with clinical features of SOFT syndrome, along with hyperinsulinemia, diabetes or glucose intolerance, hypertriglyceridemia, liver steatosis, and central fat distribution. They also display resistance to the effects of IGF-1. Cellular studies show that the lack of POC1A protein expression impairs ciliogenesis and adipocyte differentiation, induces cellular senescence, and leads to resistance to insulin and IGF-1. An altered subcellular localization of insulin receptors and, to a lesser extent, IGF1 receptors could also contribute to resistance to insulin and IGF1. Conclusions: Severe growth retardation, IGF-1 resistance, and centripetal fat repartition associated with insulin resistance-related metabolic abnormalities should be considered as typical features of SOFT syndrome caused by biallelic POC1A null variants. Adipocyte dysfunction and cellular senescence likely contribute to the metabolic consequences of POC1A deficiency. SOFT syndrome should be included within the group of monogenic ciliopathies with metabolic and adipose tissue involvement, which already encompasses Bardet-Biedl and Alström syndromes.
MeSH term(s)	Humans ; Cell Cycle Proteins/genetics ; Cytoskeletal Proteins/genetics ; Insulin-Like Growth Factor I ; Insulin Resistance/genetics ; Ciliopathies/genetics ; Abnormalities, Multiple/genetics ; Insulins
Chemical Substances	Cell Cycle Proteins ; Cytoskeletal Proteins ; Insulin-Like Growth Factor I (67763-96-6) ; Insulins ; POC1A protein, human
Language	English
Publishing date	2024-01-19
Publishing country	England
Document type	Journal Article
ZDB-ID	1183856-5
ISSN	1479-683X ; 0804-4643
ISSN (online)	1479-683X
ISSN	0804-4643
DOI	10.1093/ejendo/lvae009
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Article ; Online: Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center.

Donadille, Bruno / Janmaat, Sonja / Mosbah, Héléna / Belalem, Inès / Lamothe, Sophie / Nedelcu, Mariana / Jannot, Anne-Sophie / Christin-Maitre, Sophie / Fève, Bruno / Vatier, Camille / Vigouroux, Corinne

Orphanet journal of rare diseases

2024 Volume 19, Issue 1, Page(s) 177

Abstract: Background: Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications.: Objective: We aimed to evaluate the ... ...

Abstract	Background: Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications. Objective: We aimed to evaluate the patients' age at referral to our dedicated national reference center in France and their elapsed time from first symptoms to diagnosis and access to specialized care. Patients and methods: We analyzed data from patients with rare lipodystrophy and insulin-resistance syndromes referred to the coordinating PRISIS reference center (Adult Endocrine Department, Saint-Antoine Hospital, AP-HP, Paris), prospectively recorded between 2018 and 2023 in the French National Rare Disease Database (BNDMR, Banque Nationale de Données Maladies Rares). Results: A cohort of 292 patients was analyzed, including 208 women, with the following diagnosis: Familial Partial LipoDystrophy (FPLD, n = 124, including n = 67 FPLD2/Dunnigan Syndrome); Acquired lipodystrophy syndromes (n = 98, with n = 13 Acquired Generalized Lipodystrophy, AGL); Symmetric cervical adenolipomatosis (n = 27, Launois-Bensaude syndrome, LB), Congenital generalized lipodystrophy (n = 18, CGL) and other rare severe insulin-resistance syndromes (n = 25). The median age at referral was 47.6 years [IQR: 31-60], ranging from 25.2 (CGL) to 62.2 years old (LB). The median age at first symptoms of 27.6 years old [IQR: 16.8-42.0]) and the median diagnostic delay of 6.4 years [IQR: 1.3-19.5] varied among diagnostic groups. The gender-specific expression of lipodystrophy is well-illustrated in the FPLD2 group (91% of women), presenting with first signs at 19.3 years [IQR: 14.4-27.8] with a diagnostic delay of 10.5 years [IQR: 1.8-27.0]. Conclusion: The national rare disease database provides an important tool for assessment of care pathways in patients with lipodystrophy and rare insulin-resistance syndromes in France. Improving knowledge to reduce diagnostic delay is an important objective of the PRISIS reference center.
MeSH term(s)	Humans ; Female ; Male ; Insulin Resistance/physiology ; Lipodystrophy/diagnosis ; Lipodystrophy/metabolism ; Adult ; Middle Aged ; Young Adult ; France ; Adolescent ; Referral and Consultation
Language	English
Publishing date	2024-04-27
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-024-03173-2
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Article ; Online: Enhanced cell viscosity: A new phenotype associated with lamin A/C alterations.

Jebane, Cécile / Varlet, Alice-Anaïs / Karnat, Marc / Hernandez-Cedillo, Lucero M / Lecchi, Amélie / Bedu, Frédéric / Desgrouas, Camille / Vigouroux, Corinne / Vantyghem, Marie-Christine / Viallat, Annie / Rupprecht, Jean-François / Helfer, Emmanuèle / Badens, Catherine

iScience

2023 Volume 26, Issue 10, Page(s) 107714

Abstract: Lamin A/C is a well-established key contributor to nuclear stiffness and its role in nucleus mechanical properties has been extensively studied. However, its impact on whole-cell mechanics has been poorly addressed, particularly concerning measurable ... ...

Abstract	Lamin A/C is a well-established key contributor to nuclear stiffness and its role in nucleus mechanical properties has been extensively studied. However, its impact on whole-cell mechanics has been poorly addressed, particularly concerning measurable physical parameters. In this study, we combined microfluidic experiments with theoretical analyses to quantitatively estimate the whole-cell mechanical properties. This allowed us to characterize the mechanical changes induced in cells by lamin A/C alterations and prelamin A accumulation resulting from atazanavir treatment or lipodystrophy-associated LMNA R482W pathogenic variant. Our results reveal a distinctive increase in long-time viscosity as a signature of cells affected by lamin A/C alterations. Furthermore, they show that the whole-cell response to mechanical stress is driven not only by the nucleus but also by the nucleo-cytoskeleton links and the microtubule network. The enhanced cell viscosity assessed with our microfluidic assay could serve as a valuable diagnosis marker for lamin-related diseases.
Language	English
Publishing date	2023-08-25
Publishing country	United States
Document type	Journal Article
ISSN	2589-0042
ISSN (online)	2589-0042
DOI	10.1016/j.isci.2023.107714
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Article ; Online: Leptine, adiponectine, syndromes lipodystrophiques et d’insulino-résistance sévère.

Vatier, Camille / Jéru, Isabelle / Fellahi, Soraya / Capeau, Jacqueline / Bastard, Jean-Philippe / Vigouroux, Corinne

Annales de biologie clinique

2020 Volume 78, Issue 3, Page(s) 261–264

Abstract: Leptin and adiponectin are two adipokines currently used as biomarkers for diagnostic orientation and phenotyping in syndromes of lipodystrophy and severe insulin resistance. The level of these biomarkers also has an impact on the therapeutic management ... ...

Title translation	Leptin, adiponectin, lipodystrophic and severe insulin resistance syndromes.
Abstract	Leptin and adiponectin are two adipokines currently used as biomarkers for diagnostic orientation and phenotyping in syndromes of lipodystrophy and severe insulin resistance. The level of these biomarkers also has an impact on the therapeutic management of the patients. These aspects, as well as our experience as a reference center, are described in this brief overview.
MeSH term(s)	Adiponectin/blood ; Adiponectin/physiology ; Biomarkers/analysis ; Biomarkers/blood ; Humans ; Insulin Resistance/physiology ; Leptin/blood ; Leptin/physiology ; Lipodystrophy/diagnosis ; Lipodystrophy/pathology ; Lipodystrophy/therapy ; Metabolic Syndrome/diagnosis ; Metabolic Syndrome/therapy ; Phenotype ; Severity of Illness Index
Chemical Substances	Adiponectin ; Biomarkers ; Leptin
Language	French
Publishing date	2020-05-18
Publishing country	France
Document type	Journal Article ; Review
ZDB-ID	418098-7
ISSN	1950-6112 ; 0003-3898
ISSN (online)	1950-6112
ISSN	0003-3898
DOI	10.1684/abc.2020.1551
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Article ; Online: Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy.

Mosbah, Héléna / Vatier, Camille / Andriss, Béatrice / Belalem, Inès / Delemer, Brigitte / Janmaat, Sonja / Jéru, Isabelle / Le Collen, Lauriane / Maiter, Dominique / Nobécourt, Estelle / Vantyghem, Marie-Christine / Vigouroux, Corinne / Dumas, Agnes

European journal of endocrinology

2023 Volume 190, Issue 1, Page(s) 23–33

Abstract: Objective: Underdiagnosis is an important issue in genetic lipodystrophies, which are rare diseases with metabolic, cardiovascular, gynecological, and psychological complications. We aimed to characterize the diagnostic pathway in these diseases from ... ...

Abstract	Objective: Underdiagnosis is an important issue in genetic lipodystrophies, which are rare diseases with metabolic, cardiovascular, gynecological, and psychological complications. We aimed to characterize the diagnostic pathway in these diseases from the patients' perspective. Design: Cross-sectional study conducted through a self-reported patient questionnaire. Methods: Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity. Patients completed a self-reported questionnaire on disease symptoms, steps leading to the diagnosis, and healthcare professionals involved. Descriptive analyses were conducted. Results: Out of 175 eligible patients, 109 patients (84% women) were included; 93 had partial familial lipodystrophy and 16 congenital generalized lipodystrophy. Metabolic comorbidities (diabetes 68%, hypertriglyceridemia 66%, hepatic steatosis 57%), cardiovascular (hypertension 54%), and gynecologic complications (irregular menstruation 60%) were frequently reported. Median age at diagnosis was 30 years (interquartile range [IQR] 23-47). The overall diagnostic process was perceived as "very difficult" for many patients. It extended over 12 years (IQR 5-25) with more than five different physicians consulted by 36% of respondents, before diagnosis, for lipodystrophy-related symptoms. The endocrinologist made the diagnosis for 77% of the patients. Changes in morphotype were reported as the first symptoms by the majority of respondents. Conclusions: Diagnostic pathway in patients with genetic lipodystrophy is rendered difficult by the multisystemic features of the disease and the lack of knowledge of non-specialized physicians. Training physicians to systematically include adipose tissue examination in routine clinical evaluation should improve diagnosis and management of lipodystrophy and lipodystrophy-associated comorbidities.
MeSH term(s)	Humans ; Female ; Adult ; Male ; Cross-Sectional Studies ; Rare Diseases ; Lipodystrophy/diagnosis ; Lipodystrophy/genetics ; Lipodystrophy, Congenital Generalized/diagnosis ; Lipodystrophy, Congenital Generalized/genetics
Language	English
Publishing date	2023-12-21
Publishing country	England
Document type	Journal Article
ZDB-ID	1183856-5
ISSN	1479-683X ; 0804-4643
ISSN (online)	1479-683X
ISSN	0804-4643
DOI	10.1093/ejendo/lvad169
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Article ; Online: Progerin Expression Induces Inflammation, Oxidative Stress and Senescence in Human Coronary Endothelial Cells.

Bidault, Guillaume / Garcia, Marie / Capeau, Jacqueline / Morichon, Romain / Vigouroux, Corinne / Béréziat, Véronique

Cells

2020 Volume 9, Issue 5

Abstract: Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder notably characterized by precocious and deadly atherosclerosis. Almost 90% of HGPS patients carry a LMNA p.G608G splice variant that leads to the expression of a permanently ... ...

Abstract	Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder notably characterized by precocious and deadly atherosclerosis. Almost 90% of HGPS patients carry a LMNA p.G608G splice variant that leads to the expression of a permanently farnesylated abnormal form of prelamin-A, referred to as progerin. Endothelial dysfunction is a key determinant of atherosclerosis, notably during aging. Previous studies have shown that progerin accumulates in HGPS patients' endothelial cells but also during vascular physiological aging. However, whether progerin expression in human endothelial cells can recapitulate features of endothelial dysfunction is currently unknown. Herein, we evaluated the direct impact of exogenously expressed progerin and wild-type lamin-A on human endothelial cell function and senescence. Our data demonstrate that progerin, but not wild-type lamin-A, overexpression induces endothelial cell dysfunction, characterized by increased inflammation and oxidative stress together with persistent DNA damage, increased cell cycle arrest protein expression and cellular senescence. Inhibition of progerin prenylation using a pravastatin-zoledronate combination partly prevents these defects. Our data suggest a direct proatherogenic role of progerin in human endothelial cells, which could contribute to HGPS-associated early atherosclerosis and also potentially be involved in physiological endothelial aging participating to age-related cardiometabolic diseases.
MeSH term(s)	Cell Nucleus/metabolism ; Cell Nucleus Shape ; Cells, Cultured ; Cellular Senescence ; Coronary Vessels/pathology ; DNA Damage ; Endothelial Cells/metabolism ; Endothelial Cells/pathology ; Humans ; Inflammation/pathology ; Lamin Type A/metabolism ; Nitric Oxide Synthase/metabolism ; Oxidative Stress ; Protein Prenylation
Chemical Substances	Lamin Type A ; prelamin A ; Nitric Oxide Synthase (EC 1.14.13.39)
Language	English
Publishing date	2020-05-12
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells9051201
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Article ; Online: Le rapport adiponectine sur leptine, un biomarqueur d’insulino-résistance et de risque cardiométabolique encore méconnu.

Vatier, Camille / Antuna-Puente, Barbara / Fellahi, Soraya / Vigouroux, Corinne / Capeau, Jacqueline / Bastard, Jean-Philippe

Annales de biologie clinique

2020 Volume 78, Issue 3, Page(s) 265–268

Abstract: Leptin and adiponectin are two adipokines. Their circulating concentrations, high for leptin and low for adiponectin, are predictive of insulin resistance and of an unfavorable cardiometabolic evolution in patients with obesity, metabolic syndrome or ... ...

Title translation	The adiponectin to leptin ratio, a still unrecognized biomarker of insulin resistance and cardiometabolic risk.
Abstract	Leptin and adiponectin are two adipokines. Their circulating concentrations, high for leptin and low for adiponectin, are predictive of insulin resistance and of an unfavorable cardiometabolic evolution in patients with obesity, metabolic syndrome or type 2 diabetes. In addition, recently, the adiponectin/leptin ratio has been proposed as an index of adipose tissue dysfunction together with threshold values for cardiometabolic risk for this index. The relevance and potential applications of the adiponectin/leptin and leptin/adiponectin ratios are discussed in the light of recent literature in this brief update.
MeSH term(s)	Adiponectin/analysis ; Adiponectin/blood ; Biomarkers/analysis ; Biomarkers/blood ; Cardiovascular Diseases/blood ; Cardiovascular Diseases/diagnosis ; Cardiovascular Diseases/etiology ; Diabetes Mellitus, Type 2/complications ; Diabetes Mellitus, Type 2/diagnosis ; Diabetes Mellitus, Type 2/metabolism ; Diagnostic Techniques, Endocrine ; Humans ; Insulin Resistance ; Leptin/analysis ; Leptin/blood ; Metabolic Syndrome/complications ; Metabolic Syndrome/diagnosis ; Metabolic Syndrome/metabolism ; Obesity/complications ; Obesity/diagnosis ; Obesity/metabolism ; Prognosis ; Risk Factors
Chemical Substances	Adiponectin ; Biomarkers ; Leptin
Language	French
Publishing date	2020-05-18
Publishing country	France
Document type	Journal Article ; Review
ZDB-ID	418098-7
ISSN	1950-6112 ; 0003-3898
ISSN (online)	1950-6112
ISSN	0003-3898
DOI	10.1684/abc.2020.1559
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Article ; Online: Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28-29 September 2023.

Ceccarini, Giovanni / Akinci, Baris / Araujo-Vilar, David / Beghini, Marianna / Brown, Rebecca J / Carrion Tudela, Juan / Corradin, Valeria / Donadille, Bruno / Jerez Ruiz, Jose / Jeru, Isabelle / Lattanzi, Giovanna / Maffei, Margherita / McIlroy, George D / Nobécourt, Estelle / Perez de Tudela, Naca / Rochford, Justin J / Sanders, Rebecca / von Schnurbein, Julia / Tews, Daniel /

Vantyghem, Marie-Christine / Vatier, Camille / Vigouroux, Corinne / Santini, Ferruccio

Annales d'endocrinologie

2024

Abstract: Lipodystrophy syndromes are rare diseases primarily affecting the development or maintenance of the adipose tissue but are also distressing indirectly multiple organs and tissues, often leading to reduced life expectancy and quality of life. ... ...

Abstract	Lipodystrophy syndromes are rare diseases primarily affecting the development or maintenance of the adipose tissue but are also distressing indirectly multiple organs and tissues, often leading to reduced life expectancy and quality of life. Lipodystrophy syndromes are multifaceted disorders caused by genetic mutations or autoimmunity in the vast majority of cases. While many subtypes are now recognized and classified, the disease remains remarkably underdiagnosed. The European Consortium of Lipodystrophies (ECLip) was founded in 2014 as a non-profit network of European centers of excellence working in the field of lipodystrophies aiming at promoting international collaborations to increase basic scientific understanding and clinical management of these syndromes. The network has developed a European Patient Registry as a collaborative research platform for consortium members. ECLip and ECLip registry activities involve patient advocacy groups to increase public awareness and to seek advice on research activities relevant from the patients perspective. The annual ECLip congress provides updates on the research results of various network groups members.
Language	English
Publishing date	2024-03-05
Publishing country	France
Document type	Clinical Conference
ZDB-ID	299-9
ISSN	2213-3941 ; 0003-4266
ISSN (online)	2213-3941
ISSN	0003-4266
DOI	10.1016/j.ando.2024.03.002
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