Document Detail


Nuclear envelope-related lipodystrophies.
MedLine Citation:
PMID:  24384368     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Several alterations in nuclear envelope proteins building up the lamina meshwork beneath the inner nuclear membrane (mutations in lamins A/C, alterations of prelamin-A maturation, lamin B mutations or deregulation) have been shown to be responsible for or associated to human lipodystrophic syndromes. Lipodystrophic syndromes are rare and heterogeneous diseases, either genetic or acquired, characterized by generalized or partial fat atrophy associated with metabolic complications comprising insulin-resistant diabetes, dyslipidemia, and non-alcoholic fatty liver disease. Recent advances in the molecular genetics of different types of lipodystrophies generally pointed to primary adipocyte alterations leading to impaired adipogenesis and/or deregulation of the adipocyte lipid droplet. However, the precise mechanisms linking nuclear envelope abnormalities to lipodystrophies remain largely unknown. The phenotype of nuclear envelope-linked lipodystrophies ranges from the typical Familial Partial Lipodystrophy of the Dunnigan type (FPLD2), due to heterozygous substitutions of the 482nd arginine of lamins A/C, to complex diseases that can combine lipodystrophy, metabolic complications, muscular or cardiac alterations and/or signs of accelerated aging. In this review we present the clinical, tissular and cellular characteristics of the nuclear envelope-linked lipodystrophies, as well as their hypothetical pathophysiological mechanisms.
Authors:
A C Guénantin; N Briand; G Bidault; P Afonso; V Béréziat; C Vatier; O Lascols; M Caron-Debarle; J Capeau; C Vigouroux
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-12-30
Journal Detail:
Title:  Seminars in cell & developmental biology     Volume:  -     ISSN:  1096-3634     ISO Abbreviation:  Semin. Cell Dev. Biol.     Publication Date:  2013 Dec 
Date Detail:
Created Date:  2014-1-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9607332     Medline TA:  Semin Cell Dev Biol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2013. Published by Elsevier Ltd.
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