UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Common genetic variation in a basal promoter element alters DDAH2 expression in endothelial cells

Jones, LC; Tran, CTL; Leiper, JM; Hingorani, AD; Vallance, P; (2003) Common genetic variation in a basal promoter element alters DDAH2 expression in endothelial cells. BIOCHEM BIOPH RES CO , 310 (3) 836 - 843. 10.1016/j.bbrc.2003.09.097.

Full text not available from this repository.

Abstract

Synthesis of the vasodilator nitric oxide (NO) can be inhibited by the endogenous methylarginines L-NMMA and ADMA. ADMA is elevated in a number of cardiovascular disorders in which NO availability is reduced. Elimination of ADMA from the body occurs primarily by enzymatic breakdown through the action of DDAH, of which two isoforms exist, DDAH1 and DDAH2. In this study we have identified a core promoter region of the DDAH2 gene, and transcription factor sites that play an important role in the regulation of DDAH2 expression. Using PCR-SSCP analysis we also identified six common polymorphisms. One of these polymorphisms (an insertion/deletion at position -871) within the core promoter element influenced basal transcription. The discovery of a functional polymorphism within the DDAH2 promoter suggests that there may be common, individual differences in the ability to metabolise ADMA in vivo, that in turn, might underlie susceptibility to cardiovascular disease. (C) 2003 Published by Elsevier Inc.

Type:Article
Title:Common genetic variation in a basal promoter element alters DDAH2 expression in endothelial cells
DOI:10.1016/j.bbrc.2003.09.097
Keywords:DDAH2, ADMA, nitric oxide, endothelium, cardiovascular disease, NITRIC-OXIDE SYNTHESIS, ENDOGENOUS INHIBITOR, NG,NG-DIMETHYLARGININE, DIMETHYLAMINOHYDROLASE, POLYMORPHISM, METABOLISM, FAILURE, ADMA, RISK
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Medicine (Division of)
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science

Archive Staff Only: edit this record