Abstract | BACKGROUND: METHODS: Genomic DNA was isolated from heparin blood from nine CBS deficient patients that were treated with homomcysteine-lowering therapy and eight healthy controls. Global DNA methylation was measured by liquid chromatography-electrospay ionization-tandem mass spectrometry and gene-specific DNA methylation of the H19 DMR was determined by bisulphite-sequencing. RESULTS:
Homocysteine, AdoMet and AdoHcy levels were significantly elevated, whereas no differences in AdoMet:AdoHcy ratio were observed in plasma of treated CBS deficient patients compared with controls. Global DNA methylation and gene-specific DNA methylation of the H19 DMR was not different between CBS deficient patients and controls. CONCLUSION: We demonstrate that DNA methylation is not impaired in treated CBS deficient patients. Further studies are necessary to investigate the precise role of homocysteine-lowering therapy in relation to DNA methylation in patients with homocystinuria.
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Authors | Sandra G Heil, Niels P Riksen, Godfried H Boers, Yvo Smulders, Henk J Blom |
Journal | Molecular genetics and metabolism
(Mol Genet Metab)
Vol. 91
Issue 1
Pg. 55-60
(May 2007)
ISSN: 1096-7192 [Print] United States |
PMID | 17336565
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Homocysteine
- S-Adenosylmethionine
- DNA
- S-Adenosylhomocysteine
- Cystathionine beta-Synthase
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Topics |
- Chromatography, Liquid
- Cystathionine beta-Synthase
(deficiency, metabolism)
- DNA
(metabolism)
- DNA Methylation
- Homocysteine
(blood, metabolism)
- Homocystinuria
(metabolism)
- Humans
- Hyperhomocysteinemia
(metabolism)
- S-Adenosylhomocysteine
(blood, metabolism)
- S-Adenosylmethionine
(blood, metabolism)
- Sequence Analysis, DNA
- Spectrometry, Mass, Electrospray Ionization
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