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A Novel Splice-Site Mutation in Angiotensin I-Converting Enzyme (ACE) Gene, c.3691+1G>A (IVS25+1G>A), Causes a Dramatic Increase in Circulating ACE through Deletion of the Transmembrane Anchor.

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Persu, Alexandre [UCL] Lambert, Michel Deinum, Jaap Cossu, Marta de Visscher, Nathalie Irenge, Leonid [UCL] Ambroise, Jérôme [UCL] Gala, Jean-Luc [UCL]

We describe a novel mutation of the ACE gene associated with a major familial elevation of circulating ACE, without evidence of activation of the renin-angiotensin system, target organ damage or cardiovascular complications. These data are consistent with the hypothesis that membrane-bound ACE, rather than circulating ACE, is responsible for Angiotensin II generation and its cardiovascular consequences.

Document type Article de périodique (Journal article)
Access type Accès libre
Publication date 2013
Language Anglais
Journal information "PLoS One" - Vol. 8, no. 4, p. e59537 (2013)
Peer reviewed yes
Publisher Public Library of Science ((United States) [S.l.])
issn 1932-6203
Publication status Publié
Affiliations UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire
UCL - SSS/IREC/CTMA - Centre de technologies moléculaires appliquées (plate-forme technologique)
UCL - (SLuc) Service de cardiologie
Links
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Bibliographic reference Persu, Alexandre ; Lambert, Michel ; Deinum, Jaap ; Cossu, Marta ; de Visscher, Nathalie ; et. al. A Novel Splice-Site Mutation in Angiotensin I-Converting Enzyme (ACE) Gene, c.3691+1G>A (IVS25+1G>A), Causes a Dramatic Increase in Circulating ACE through Deletion of the Transmembrane Anchor.. In: PLoS One, Vol. 8, no. 4, p. e59537 (2013)
Permanent URL http://hdl.handle.net/2078.1/128266