Angiotensin I-converting enzyme (ACE) metabolizes a range of peptidic substrates and plays a key role in blood pressure regulation and vascular remodeling. Thus， elevated ACE levels may be associated with an increased risk for different cardiovascular or respiratory diseases. Previously， a striking familial elevation in blood ACE was explained by mutations in the ACE juxtamembrane region that enhanced the cleavage-secretion process. Recently， we found a family whose affected members had a 6-fold increase in blood ACE and a Tyr465Asp (Y465D) substitution， distal to the stalk region， in the N domain of ACE.
Angiotensin I-converting enzyme (ACE) metabolizes a range of peptidic substrates and plays a key role in blood pressure regulation and vascular remodeling. Thus， elevated ACE levels may be associated with an increased risk for different cardiovascular or respiratory diseases. Previously， a striking familial elevation in blood ACE was explained by mutations in the ACE juxtamembrane region that enhanced the cleavage-secretion process. Recently， we found a family whose affected members had a 6-fold increase in blood ACE and a Tyr465Asp (Y465D) substitution， distal to the stalk region， in the N domain of ACE.
