Mutationsscreening funktionell relevanter Regionen von eNOS, Caveolin und VEGF bei koronarangiographierten Patienten

Die endotheliale Stickoxydsynthase (eNOS) ist ein wichtiges regulatorisches Enzym, welches die Produktion von vasoprotektivem Stickstoffmonoxyd (NO) aus L-Arginin katalysiert. Sie reguliert somit den systemischen Blutdruck und greift in den Gefäßumbau und die Angiogenese ein. Verminderte NO Produkti...

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Bibliographic Details
Main Author: Moalem, Margitta
Contributors: Schäfer, Jürgen (Prof. Dr.) (Thesis advisor)
Format: Doctoral Thesis
Published: Philipps-Universität Marburg 2005
Online Access:PDF Full Text
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The genetic screening study presented here was designed to unreveal novel variants in fuctional important regions of constitutive eNOS and related modulators of this enzyme in subjects with CAD. In addition to this attempt, a polymorphism (Glu298Asp) which has been reported as a risk factor for CAD was also examined. Our findings that beside two silent mutations, only one missense variant in the direct vicinity calmodulin binding domain of eNOS was detected in 795 examined subjects, indicates the high conservation of this regions and their importance in the regulation of vascular endothelium function. However in one subject a novel variant in the direct vicinity of the calmodulin binding domain was identified. From the evaluated clinical signs this novel mutation seems to be stronly associated with the development of CAD. Beside this findings no association of the Glu298Asp polymorphism with CAD was observed in our study group.