Abstract |
Cardiovascular diseases (CVDs) are the leading causes of death in the developed countries. Elevated homocysteine level is as an independent risk factor of CVDs. The C677T and A1298C variants of methylenetetrahydrofolate reductase gene (MTHFR) have been shown to influence folate and homocysteine metabolisms. However, the relationship between MTHFR polymorphisms and hyperhomocysteinemia has not been well established yet. The gene variants were also reported to be associated with CVDs. In addition, the C677T polymorphisms may play a role in the development of hypertension. Recent research evidence has suggested that MTHFR variants might be independently linked to CVDs and hypertension, because of the involvement of the MTHFR enzyme product (5-methyl- tetrahydrofolate /5- MTHF) in the regulation of endothelial functions. Further research is required to investigate the association between gene polymorphisms of folate-metabolizing enzymes and CVDs, and to identify the possible role of the relevant gene variants in the molecular pathogenesis of hyperhomocysteinemia.
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Authors | Krisztina Marosi, Annamária Agota, Veronika Végh, József Gábor Joó, Zoltán Langmár, Ildikó Kriszbacher, Zsolt B Nagy |
Journal | Orvosi hetilap
(Orv Hetil)
Vol. 153
Issue 12
Pg. 445-53
(Mar 25 2012)
ISSN: 0030-6002 [Print] Hungary |
Vernacular Title | A homocisztein és a metilén-tetrahidrofolát-reduktáz, metionin-szintáz, valamint a metionin-szintáz-reduktáz génpolimorfizmusok szerepe a cardiovascularis megbetegedésekben és a magas vérnyomás kialakulásában. |
PMID | 22411217
(Publication Type: English Abstract, Journal Article, Review)
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Chemical References |
- Homocysteine
- Folic Acid
- methionine synthase reductase
- Ferredoxin-NADP Reductase
- Methylenetetrahydrofolate Reductase (NADPH2)
- 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
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Topics |
- 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
(genetics, metabolism)
- Cardiovascular Diseases
(enzymology, genetics)
- Ferredoxin-NADP Reductase
(genetics)
- Folic Acid
(metabolism)
- Homocysteine
(genetics, metabolism)
- Humans
- Hyperhomocysteinemia
(enzymology, genetics, metabolism)
- Hypertension
(enzymology, genetics)
- Methylenetetrahydrofolate Reductase (NADPH2)
(genetics)
- Polymorphism, Single Nucleotide
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