Mutations in the LMNA gene, encoding the nuclear intermediate filaments the A-type lamins, result in a wide variety of diseases known as laminopathies. Some of them, such as familial partial lipodystrophy of Dunnigan and metabolic laminopathies, are characterized by lipodystrophic syndromes with altered fat distribution and severe metabolic alterations with insulin resistance and dyslipidaemia. Metabolic disturbances could be due either to the inability of adipose tissue to adequately store triacylglycerols or to other cellular alterations linked to A-type lamin mutations. Indeed, abnormal prelamin A accumulation and farnesylation, which are clearly involved in laminopathic premature aging syndromes, could play important roles in lipodystrophies. In addition, gene expression alterations, and signalling abnormalities affecting SREBP1 (sterol-regulatory-element-binding protein 1) and MAPK (mitogen-activated protein kinase) pathways, could participate in the pathophysiological mechanisms leading to LMNA (lamin A/C)-linked metabolic alterations and lipodystrophies. In the present review, we describe the clinical phenotype of LMNA-linked lipodystrophies and discuss the current physiological and biochemical hypotheses regarding the pathophysiology of these diseases.
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December 2011
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Conference Article|
November 21 2011
LMNA-linked lipodystrophies: from altered fat distribution to cellular alterations
Guillaume Bidault;
Guillaume Bidault
*UMPC Université Paris 6, UMR S938, F-75005 Paris, France
†INSERM UMR_S938, Centre de Recherche Saint-Antoine, F-75012 Paris, France
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Camille Vatier;
Camille Vatier
*UMPC Université Paris 6, UMR S938, F-75005 Paris, France
†INSERM UMR_S938, Centre de Recherche Saint-Antoine, F-75012 Paris, France
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Jacqueline Capeau;
Jacqueline Capeau
*UMPC Université Paris 6, UMR S938, F-75005 Paris, France
†INSERM UMR_S938, Centre de Recherche Saint-Antoine, F-75012 Paris, France
‡AP-HP, Hôpital Tenon, Service de Biochimie et Hormonologie, F-75020 Paris, France
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Corinne Vigouroux;
Corinne Vigouroux
*UMPC Université Paris 6, UMR S938, F-75005 Paris, France
†INSERM UMR_S938, Centre de Recherche Saint-Antoine, F-75012 Paris, France
‡AP-HP, Hôpital Tenon, Service de Biochimie et Hormonologie, F-75020 Paris, France
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Véronique Béréziat
Véronique Béréziat
1
*UMPC Université Paris 6, UMR S938, F-75005 Paris, France
†INSERM UMR_S938, Centre de Recherche Saint-Antoine, F-75012 Paris, France
1To whom correspondence should be addressed (email veronique.bereziat@inserm.fr).
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Publisher: Portland Press Ltd
Received:
July 27 2011
Online ISSN: 1470-8752
Print ISSN: 0300-5127
© The Authors Journal compilation © 2011 Biochemical Society
2011
Biochem Soc Trans (2011) 39 (6): 1752–1757.
Article history
Received:
July 27 2011
Citation
Guillaume Bidault, Camille Vatier, Jacqueline Capeau, Corinne Vigouroux, Véronique Béréziat; LMNA-linked lipodystrophies: from altered fat distribution to cellular alterations. Biochem Soc Trans 1 December 2011; 39 (6): 1752–1757. doi: https://doi.org/10.1042/BST20110675
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