Molecular and Cellular Bases of Lipodystrophy Syndromes

Lipodystrophy syndromes are rare diseases originating from a generalized or partial loss of adipose tissue. Adipose tissue dysfunction results from heterogeneous genetic or acquired causes, but leads to similar metabolic complications with insulin resistance, diabetes, hypertriglyceridemia, nonalcoh...

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Published inFrontiers in endocrinology (Lausanne) Vol. 12; p. 803189
Main Authors Zammouri, Jamila, Vatier, Camille, Capel, Emilie, Auclair, Martine, Storey-London, Caroline, Bismuth, Elise, Mosbah, Héléna, Donadille, Bruno, Janmaat, Sonja, Fève, Bruno, Jéru, Isabelle, Vigouroux, Corinne
Format Journal Article
LanguageEnglish
Published Switzerland Frontiers 03.01.2022
Frontiers Media S.A
Subjects
Adipocytes - physiology
adipose tissue
Adipose Tissue - metabolism
Aging, Premature
Biochemistry, Molecular Biology
diabetes
Endocrinology
genetics
Humans
Inflammation - complications
Insulin Resistance
Leptin - analogs & derivatives
Leptin - therapeutic use
Life Sciences
lipodystrophy
Lipodystrophy - drug therapy
Lipodystrophy - etiology
Lipodystrophy - metabolism
Lipodystrophy - pathology
Lipomatosis - physiopathology
senescence
Syndrome
senescence
genetics
lipomatosis
adipose tissue
immunity
diabetes
insulin resistance
lipodystrophy
Online AccessGet full text
ISSN1664-2392
1664-2392
DOI10.3389/fendo.2021.803189

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Abstract Lipodystrophy syndromes are rare diseases originating from a generalized or partial loss of adipose tissue. Adipose tissue dysfunction results from heterogeneous genetic or acquired causes, but leads to similar metabolic complications with insulin resistance, diabetes, hypertriglyceridemia, nonalcoholic fatty liver disease, dysfunctions of the gonadotropic axis and endocrine defects of adipose tissue with leptin and adiponectin deficiency. Diagnosis, based on clinical and metabolic investigations, and on genetic analyses, is of major importance to adapt medical care and genetic counseling. Molecular and cellular bases of these syndromes involve, among others, altered adipocyte differentiation, structure and/or regulation of the adipocyte lipid droplet, and/or premature cellular senescence. Lipodystrophy syndromes frequently present as systemic diseases with multi-tissue involvement. After an update on the main molecular bases and clinical forms of lipodystrophy, we will focus on topics that have recently emerged in the field. We will discuss the links between lipodystrophy and premature ageing and/or immuno-inflammatory aggressions of adipose tissue, as well as the relationships between lipomatosis and lipodystrophy. Finally, the indications of substitutive therapy with metreleptin, an analog of leptin, which is approved in Europe and USA, will be discussed.
AbstractList Lipodystrophy syndromes are rare diseases originating from a generalized or partial loss of adipose tissue. Adipose tissue dysfunction results from heterogeneous genetic or acquired causes, but leads to similar metabolic complications with insulin resistance, diabetes, hypertriglyceridemia, nonalcoholic fatty liver disease, dysfunctions of the gonadotropic axis and endocrine defects of adipose tissue with leptin and adiponectin deficiency. Diagnosis, based on clinical and metabolic investigations, and on genetic analyses, is of major importance to adapt medical care and genetic counseling. Molecular and cellular bases of these syndromes involve, among others, altered adipocyte differentiation, structure and/or regulation of the adipocyte lipid droplet, and/or premature cellular senescence. Lipodystrophy syndromes frequently present as systemic diseases with multi-tissue involvement. After an update on the main molecular bases and clinical forms of lipodystrophy, we will focus on topics that have recently emerged in the field. We will discuss the links between lipodystrophy and premature ageing and/or immuno-inflammatory aggressions of adipose tissue, as well as the relationships between lipomatosis and lipodystrophy. Finally, the indications of substitutive therapy with metreleptin, an analog of leptin, which is approved in Europe and USA, will be discussed.
Lipodystrophy syndromes are rare diseases originating from a generalized or partial loss of adipose tissue. Adipose tissue dysfunction results from heterogeneous genetic or acquired causes, but leads to similar metabolic complications with insulin resistance, diabetes, hypertriglyceridemia, nonalcoholic fatty liver disease, dysfunctions of the gonadotropic axis and endocrine defects of adipose tissue with leptin and adiponectin deficiency. Diagnosis, based on clinical and metabolic investigations, and on genetic analyses, is of major importance to adapt medical care and genetic counseling. Molecular and cellular bases of these syndromes involve, among others, altered adipocyte differentiation, structure and/or regulation of the adipocyte lipid droplet, and/or premature cellular senescence. Lipodystrophy syndromes frequently present as systemic diseases with multi-tissue involvement. After an update on the main molecular bases and clinical forms of lipodystrophy, we will focus on topics that have recently emerged in the field. We will discuss the links between lipodystrophy and premature ageing and/or immuno-inflammatory aggressions of adipose tissue, as well as the relationships between lipomatosis and lipodystrophy. Finally, the indications of substitutive therapy with metreleptin, an analog of leptin, which is approved in Europe and USA, will be discussed.Lipodystrophy syndromes are rare diseases originating from a generalized or partial loss of adipose tissue. Adipose tissue dysfunction results from heterogeneous genetic or acquired causes, but leads to similar metabolic complications with insulin resistance, diabetes, hypertriglyceridemia, nonalcoholic fatty liver disease, dysfunctions of the gonadotropic axis and endocrine defects of adipose tissue with leptin and adiponectin deficiency. Diagnosis, based on clinical and metabolic investigations, and on genetic analyses, is of major importance to adapt medical care and genetic counseling. Molecular and cellular bases of these syndromes involve, among others, altered adipocyte differentiation, structure and/or regulation of the adipocyte lipid droplet, and/or premature cellular senescence. Lipodystrophy syndromes frequently present as systemic diseases with multi-tissue involvement. After an update on the main molecular bases and clinical forms of lipodystrophy, we will focus on topics that have recently emerged in the field. We will discuss the links between lipodystrophy and premature ageing and/or immuno-inflammatory aggressions of adipose tissue, as well as the relationships between lipomatosis and lipodystrophy. Finally, the indications of substitutive therapy with metreleptin, an analog of leptin, which is approved in Europe and USA, will be discussed.
Author Auclair, Martine
Zammouri, Jamila
Vatier, Camille
Storey-London, Caroline
Janmaat, Sonja
Vigouroux, Corinne
Jéru, Isabelle
Bismuth, Elise
Donadille, Bruno
Mosbah, Héléna
Capel, Emilie
Fève, Bruno
AuthorAffiliation 3 Assistance Publique–Hôpitaux de Paris, Robert Debré Hospital, Pediatric Endocrinology Department, National Competence Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS) , Paris , France
4 Genetics Department, Assistance Publique–Hôpitaux de Paris, La Pitié-Salpêtrière Hospital , Paris , France
1 Sorbonne University, Inserm UMR_S 938, Saint–Antoine Research Centre, Cardiometabolism and Nutrition University Hospital Institute (ICAN) , Paris , France
2 Endocrinology Department, Assistance Publique–Hôpitaux de Paris, Saint–Antoine Hospital, National Reference Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS) , Paris , France
AuthorAffiliation_xml – name: 4 Genetics Department, Assistance Publique–Hôpitaux de Paris, La Pitié-Salpêtrière Hospital , Paris , France
– name: 2 Endocrinology Department, Assistance Publique–Hôpitaux de Paris, Saint–Antoine Hospital, National Reference Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS) , Paris , France
– name: 3 Assistance Publique–Hôpitaux de Paris, Robert Debré Hospital, Pediatric Endocrinology Department, National Competence Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS) , Paris , France
– name: 1 Sorbonne University, Inserm UMR_S 938, Saint–Antoine Research Centre, Cardiometabolism and Nutrition University Hospital Institute (ICAN) , Paris , France
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  surname: Vigouroux
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Copyright Copyright © 2022 Zammouri, Vatier, Capel, Auclair, Storey-London, Bismuth, Mosbah, Donadille, Janmaat, Fève, Jéru and Vigouroux.
Distributed under a Creative Commons Attribution 4.0 International License
Copyright © 2022 Zammouri, Vatier, Capel, Auclair, Storey-London, Bismuth, Mosbah, Donadille, Janmaat, Fève, Jéru and Vigouroux 2022 Zammouri, Vatier, Capel, Auclair, Storey-London, Bismuth, Mosbah, Donadille, Janmaat, Fève, Jéru and Vigouroux
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Keywords senescence
genetics
lipomatosis
adipose tissue
immunity
diabetes
insulin resistance
lipodystrophy
Language English
License Copyright © 2022 Zammouri, Vatier, Capel, Auclair, Storey-London, Bismuth, Mosbah, Donadille, Janmaat, Fève, Jéru and Vigouroux.
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Reviewed by: Giamila Fantuzzi, University of Illinois at Chicago, United States; Joan Villarroya, University of Barcelona, Spain
This article was submitted to Cellular Endocrinology, a section of the journal Frontiers in Endocrinology
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Snippet Lipodystrophy syndromes are rare diseases originating from a generalized or partial loss of adipose tissue. Adipose tissue dysfunction results from...
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SubjectTerms Adipocytes - physiology
adipose tissue
Adipose Tissue - metabolism
Aging, Premature
Biochemistry, Molecular Biology
diabetes
Endocrinology
genetics
Humans
Inflammation - complications
Insulin Resistance
Leptin - analogs & derivatives
Leptin - therapeutic use
Life Sciences
lipodystrophy
Lipodystrophy - drug therapy
Lipodystrophy - etiology
Lipodystrophy - metabolism
Lipodystrophy - pathology
Lipomatosis - physiopathology
senescence
Syndrome
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Title Molecular and Cellular Bases of Lipodystrophy Syndromes
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