Asymmetric dimethylarginine in adults with cystathionine beta-synthase deficiency.

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Title:	Asymmetric dimethylarginine in adults with cystathionine beta-synthase deficiency.
Author(s):	Rocha, M.S.; Teerlink, T.; Janssen, M.C.H. ; Kluijtmans, L.A.J. ; Smulders, Y.; Jakobs, C.; Tavares de Almeida, I.; Rivera, I.; Castro, R.; Blom, H.J.
Publication year:	2012
Source:	Atherosclerosis, vol. 222, iss. 2, (2012), pp. 509-511
ISSN:	0021-9150
DOI:	https://doi.org/10.1016/j.atherosclerosis.2012.03.009
Annotation:	1 juni 2012
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/110148
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Subject:	IGMD 3: Genomic disorders and inherited multi-system disorders IGMD 5: Health aging / healthy living NCEBP 14: Cardiovascular diseases
Organization:	Internal Medicine Paediatrics Laboratory of Genetic, Endocrine and Metabolic Diseases
Journal title:	Atherosclerosis
Volume:	vol. 222
Issue:	iss. 2
Page start:	p. 509
Page end:	p. 511
Abstract:	In hyperhomocysteinemia (HHcy), an independent risk factor for cardiovascular diseases, endothelial dysfunction due to reduced bioavailability of nitric oxide is a consistent finding. However, the underlying mechanisms remain unknown. Increased levels of the nitric oxide synthase inhibitor asymmetric dimethylarginine (ADMA) have been associated with HHcy, and may contribute, at least in part, for the homocysteine-induced endothelial dysfunction, but whether cystathionine beta-synthase (CBS) deficiency is associated with increased ADMA has hardly been investigated. To address this question, we measured total homocysteine (tHcy), ADMA and symmetric dimethylarginine (SDMA) in plasma of 22 adult CBS deficient patients, using established HPLC techniques. Results showed that in CBS deficient patients with elevated levels of tHcy (median (total range): 33 (14-237) mumol/L), both ADMA and SDMA levels were normal. Moreover, tHcy and ADMA concentrations were not correlated (r(s)=0.017, p=0.94). Our results favor the hypothesis that the negative vascular effects of HHcy have an ADMA-independent etiology.