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.

Persu, Alexandre;Lambert, Michel;Deinum, Jaap;Cossu, Marta;Gala, Jean-Luc;et.al.
(2013) PLoS One — Vol. 8, n° 4, p. e59537 (2013)

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Abstract
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.
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Persu, A., Lambert, M., Deinum, J., Cossu, M., de Visscher, N., Irenge, L., Ambroise, J., Minon, J.-M., Nesterovitch, A. B., Churbanov, A., Popova, I. A., Danilov, S. M., Danser, A. H. J., & Gala, J.-L. (2013). 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. PLoS One, 8(4), e59537. https://doi.org/10.1371/journal.pone.0059537 (Original work published 2013)