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 Printable version |
From lipodystrophies to premature ageing syndromes: the laminopathies |
Sang Thrombose Vaisseaux. Volume 16, Number 8, 419-28, Octobre 2004, Mini-revue
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 Résumé
Article gratuit
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Author(s) : Corinne Vigouroux, Bruno Donadille, Jocelyne Magré , Véronique Béréziat, Olivier Lascols, Jacqueline Capeau |
Summary : Progeria, also known as Hutchinson-Gilford syndrome, is characterized by the premature appearance of ageing-related pathological traits. A precocious and severe atherosclerosis is the main cause of mortality, which occurs at a mean age of 13, most frequently from myocardial infarction. Recently, the molecular cause of this extremely rare disease has been identified : it results from mutations in lamin A, an ubiquitously expressed nuclear protein. The LMNA gene encoding this protein is also involved in the pathogenesis of a group of clinically very different lipodystrophies, which develop from the pubertal period, and which lead to complications such as insulin resistance, diabetes and dyslipidemia, and are associated with high cardiovascular risk. The diversity of diseases linked to the LMNA gene is wide, since at least seven different diseases, called « laminopathies », are due to alterations in this unique gene. After the description of these disorders and of their complex genotype/phenotype correlations, the authors present the recent research findings and discuss the ensuing pathophysiological hypotheses, in an attempt to improve and understanding of these diseases. |
Keywords : lamin, lipodystrophy, premature ageing syndrome, atherosclerosis, insuline resistance, dyslipidemia |
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