Article
Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study.
Mitochondrion - 1 May 2007
Canter Jeffrey A, Summar Marshall L, Smith Heidi B, Rice Geraldine D, Hall Lynn D, Ritchie Marylyn D, Motsinger Alison A, Christian Karla G, Drinkwater Davis C, Scholl Frank G, Dyer Karrie L, Kavanaugh-McHugh Ann L, Barr Frederick E
Abstract excerpt
Increased pulmonary artery pressure (PAP) can complicate the postoperative care of children undergoing surgical repair of congenital heart defects. Endogenous NO regulates PAP and is derived from arginine supplied by the urea cycle. The rate-limiting step in the urea cycle is catalyzed by a mitochondrial enzyme, carbamoyl-phosphate synthetase I (CPSI). A well-characterized polymorphism in the gene encoding CPSI...
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