Human lipodystrophies represent a group of diseases characterized by altered body fat amount and/or repartition and major metabolic alterations with insulin resistance leading to diabetic complications and increased cardiovascular and hepatic risk. Genetic forms of lipodystrophies are rare. Congenital generalized lipodystrophy or Berardinelli–Seip syndrome, autosomal recessive, is characterized by a complete early lipoatrophy and severe insulin resistance and results, in most cases, from mutations either in the seipin gene of unknown function or AGPAT2 encoding an enzyme involved in triacylglycerol synthesis. The Dunnigan syndrome [FPLD2 (familial partial lipodystrophy of the Dunnigan type)] is due to mutations in LMNA encoding the lamin A/C, belonging to the complex group of laminopathies that could comprise muscular and cardiac dystrophies, neuropathies and syndromes of premature aging. Some FPLDs are linked to loss-of-function mutations in the PPAR-γ gene (peroxisome-proliferator-activated receptor γ; FPLD3) with severe metabolic alterations but a less severe lipodystrophy compared with FPLD2. The metabolic syndrome, acquired, represents the most common form of lipodystrophy. HIV-infected patients often present lipodystrophies, mainly related to side effects of antiretroviral drugs together with insulin resistance and metabolic alterations. Such syndromes help to understand the mechanisms involved in insulin resistance resulting from altered fat repartition and could benefit from insulin-sensitizing effects of lifestyle modifications or of specific medications.
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October 2005
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Conference Article|
October 26 2005
Diseases of adipose tissue: genetic and acquired lipodystrophies
J. Capeau;
J. Capeau
1
1INSERM U680, Saint-Antoine Faculty of Medicine, Université Pierre et Marie Curie (UPMC), Paris, France, and Department of Biochemistry, Tenon Hospital (AP-HP), Paris, France
1To whom correspondence should be addressed (email capeau@st-antoine.inserm.fr).
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J. Magré;
J. Magré
1INSERM U680, Saint-Antoine Faculty of Medicine, Université Pierre et Marie Curie (UPMC), Paris, France, and Department of Biochemistry, Tenon Hospital (AP-HP), Paris, France
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O. Lascols;
O. Lascols
1INSERM U680, Saint-Antoine Faculty of Medicine, Université Pierre et Marie Curie (UPMC), Paris, France, and Department of Biochemistry, Tenon Hospital (AP-HP), Paris, France
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M. Caron;
M. Caron
1INSERM U680, Saint-Antoine Faculty of Medicine, Université Pierre et Marie Curie (UPMC), Paris, France, and Department of Biochemistry, Tenon Hospital (AP-HP), Paris, France
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V. Béréziat;
V. Béréziat
1INSERM U680, Saint-Antoine Faculty of Medicine, Université Pierre et Marie Curie (UPMC), Paris, France, and Department of Biochemistry, Tenon Hospital (AP-HP), Paris, France
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C. Vigouroux;
C. Vigouroux
1INSERM U680, Saint-Antoine Faculty of Medicine, Université Pierre et Marie Curie (UPMC), Paris, France, and Department of Biochemistry, Tenon Hospital (AP-HP), Paris, France
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J.P. Bastard
J.P. Bastard
1INSERM U680, Saint-Antoine Faculty of Medicine, Université Pierre et Marie Curie (UPMC), Paris, France, and Department of Biochemistry, Tenon Hospital (AP-HP), Paris, France
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Biochem Soc Trans (2005) 33 (5): 1073–1077.
Article history
Received:
June 28 2005
Citation
J. Capeau, J. Magré, O. Lascols, M. Caron, V. Béréziat, C. Vigouroux, J.P. Bastard; Diseases of adipose tissue: genetic and acquired lipodystrophies. Biochem Soc Trans 26 October 2005; 33 (5): 1073–1077. doi: https://doi.org/10.1042/BST0331073
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