[Role of elastin in the development of vascular function. Knock-out study of the elastin gene in mice].
The elastic fibres endow extensible tissues with resiliency, such as in blood vessels, heart, skin and lung. Elastic fibres are made of microfibrils, and mainly elastin (90%) which provides the fibre with elasticity. Beside the biomechanical role of elastin, a close correlation between elastin and elastic fibre network disorganisation and vascular smooth muscle cell (VSMC) growth disregulation has been known for several years through the description and study of several human or animal polyfeatured or obstructive vascular diseases, such as supravalvular aortic stenosis (SVAS) and Williams syndrome (WS), both related to heterozygous mutations or deletion in the elastin gene. The study of mice knock-out for the elastin gene (homozygous or heterozygous) leads to think that elastin should now be seen as an important elastic component providing extensible tissues with resiliency, as well as a major developmental regulator of VSMC life cycle and smooth muscle tissue organisation. Further developments in the area of preventive therapy of SVAS, WS or other inherited muscular disorders are likely to arise from these results.
Faury
G
G
Laboratoire de Bioénergétique Fondamentale et Appliquée-Groupe d'Electrophysiologie Moléculaire, Université Joseph Fourier, B.P. 53 X, 38041 Grenoble, France. Gilles.Faury@ujf-grenoble.fr
D000818:Animals; D021921:Aortic Stenosis, Supravalvular / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D003331:Coronary Vessels / Q000473:pathology; D004547:Elastic Tissue / Q000502:physiology; D004548:Elasticity; D004549:Elastin / Q000235:genetics / Q000502:physiology*; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000098:blood supply; D051379:Mice; D018345:Mice, Knockout; D009131:Muscle, Smooth, Vascular / Q000737:chemistry / Q000502:physiology*; D012867:Skin / Q000098:blood supply; D018980:Williams Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology
D004549:Elastin