Although the aetiology of Williams syndrome (WS) is related to elastin gene disruption, its pathogenesis remains unknown, particularly that of vascular lesions. The aim of the present study was to compare the elastic properties of three WS patients with age- and gender-matched normotensive and hypertensive controls. Common carotid arteries of WS patients had a higher distensibility, a thicker intima-media and a lower elastic modulus. Electron microscopy studies of one WS renal artery showed major abnormalities of the elastic fibres, which displayed a reticular structure and a thickening of the internal elastic lamina, whereas the ultrastructure of elastic fibres was normal in a control subadventitial muscular fibrodysplasia. In this WS arterial stenosis, we studied the expression patterns of several major smooth muscle (SM) phenotypic markers using immunofluorescence and used a normal renal artery as a control. In WS, SM-α-actin- and myosin-heavy-chain-positive cells contained low amounts of heavy caldesmon, and laminin-β1 chain was expressed into the basement membranes, indicating a less differentiated phenotype. In conclusion, in WS patients, the carotid artery wall was abnormally distensible and thick, and major ultrastructural abnormalities of elastic fibres were observed in association with smooth muscle cell de-differentiation. These results indicate that the haplo-insufficiency of the elastin gene in WS patients leads to abnormal elastic fibre assembly within the media. Arterial wall hypertrophy found with a primary defect in elastin may represent a major factor responsible for increased distensibility. We suggest that, in WS, the increased proliferative response and the associated de-differentiation process represent two important mechanisms underlying the matrix accumulation and the development of arterial stenosis.
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June 06 2002
Disruption of the elastin gene in adult Williams syndrome is accompanied by a paradoxical reduction in arterial stiffness
Patrick LACOLLEY;
Patrick LACOLLEY
1
*INSERM EMI-U 0107, 15 rue de l'école de médecine, 75270 Paris cedex 06, France
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Pierre BOUTOUYRIE;
Pierre BOUTOUYRIE
1
†Service de Pharmacologie, Hôpital Européen Georges Pompidou, 75908 Paris cedex 15, France
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Marina GLUKHOVA;
Marina GLUKHOVA
‡UMR 144, CNRS-Institut Curie, Section de Recherche, 26 rue d'Ulm, 75248 Paris cedex 05, France
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Jean-Marie DANIEL LAMAZIERE;
Jean-Marie DANIEL LAMAZIERE
§INSERM U441, Avenue du Haut Lévêque, 33600 Pessac, France
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Pierre-François PLOUIN;
Pierre-François PLOUIN
ǁDépartement d'Hypertension Artérielle, Hôpital Européen Georges Pompidou, 75908 Paris cedex 15, France
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Patrick BRUNEVAL;
Patrick BRUNEVAL
¶Département d'Anatomie Pathologique, Hôpital Européen Georges Pompidou, 75908 Paris cedex 15, France
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Phat VUONG;
Phat VUONG
**Unité d'Anatomie et de Cytologie Pathologiques, Hôpital Saint Michel, 33 rue Olivier de Serres, 75730 Paris cedex 15, France
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Pierre CORVOL;
Pierre CORVOL
ǁDépartement d'Hypertension Artérielle, Hôpital Européen Georges Pompidou, 75908 Paris cedex 15, France
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Stéphane LAURENT
†Service de Pharmacologie, Hôpital Européen Georges Pompidou, 75908 Paris cedex 15, France
Correspondence: Professor Stéphane Laurent (e-mail [email protected]).
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Publisher: Portland Press Ltd
Received:
October 05 2001
Revision Received:
January 04 2002
Accepted:
March 14 2002
Online ISSN: 1470-8736
Print ISSN: 0143-5221
The Biochemical Society and the Medical Research Society © 2002
2002
Clin Sci (Lond) (2002) 103 (1): 21–28.
Article history
Received:
October 05 2001
Revision Received:
January 04 2002
Accepted:
March 14 2002
Citation
Patrick LACOLLEY, Pierre BOUTOUYRIE, Marina GLUKHOVA, Jean-Marie DANIEL LAMAZIERE, Pierre-François PLOUIN, Patrick BRUNEVAL, Phat VUONG, Pierre CORVOL, Stéphane LAURENT; Disruption of the elastin gene in adult Williams syndrome is accompanied by a paradoxical reduction in arterial stiffness. Clin Sci (Lond) 1 July 2002; 103 (1): 21–28. doi: https://doi.org/10.1042/cs1030021
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