Decreased enzymatic activity of 5,10-methylene tetrahydrofolate reductase affects the development of several diseases
<p>The importance of folates in human physiology is well known, as are various pathologies associated with low folate status. Folate deficiency can occur due to low dietary intake, genetic predisposition or treatment with medicines affecting the folate status. The aim of this paper is to explo...
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doaj-af2154407a76414597ce42f38c0d15ab2020-11-24T21:26:08ZengSlovenian Medical AssociationZdravniški Vestnik1318-03471581-02242016-07-01855-61361Decreased enzymatic activity of 5,10-methylene tetrahydrofolate reductase affects the development of several diseasesMaša Vidmar0Jasna Grželj1Ksenija Gersak2Irena Mlinarič-Raščan3Univerzitetni klinični center Ljubljana Ginekološka klinikaKRKA, d.d. Novo mesto Šmarješka 6 Novo mestoUniverza v Ljubjani Medicinska fakulteta in Univerzitetni klinični center Ljubljana Ginekološka klinikaUniverza v Ljubljani Fakulteta za farmacijo Aškerčeva 7 Ljubljana<p>The importance of folates in human physiology is well known, as are various pathologies associated with low folate status. Folate deficiency can occur due to low dietary intake, genetic predisposition or treatment with medicines affecting the folate status. The aim of this paper is to explore the importance of determining genetic polymorphisms which influence the levels of biologically active folate. MTHFR is involved in the transformation of 5,10-methylene-THF to 5-methyl-THF. Polymorphisms of the MTHRF gene are associated with decreased enzymatic activity.</p><p>Only 9.3 % of the population in Slovenia displays full activity of the MTHFR enzyme; these subjects are non-mutated homozygotes (wild-type alleles). In contrast, the average enzymatic activity in subjects with mutated alleles is between 50 and 60 %. MTHFR polymorphism is associated with an increased risk of hyperhomocysteinemia and cardiovascular diseases, neurological disorders and various types of cancer. There is also an increased risk for congenital malformations. Folic acid food fortification was introduced in some countries in order to assure an adequate folate status in the population. However, this approach does not address the decreased activity of MTHFR.</p><p>Polymorphism in the key enzymes of the folate cycle is common. Determination of the genetic predisposition is therefore plausible in the most vulnerable groups of the population, such as pregnant women and patients receiving medicines influencing the folate cycle in various ways, e.g. 5-fluorouracil, methotrexate and 6-mercaptopurine. Genotyping would allow the identification of patients at high risk for suboptimal folate status.</p>http://vestnik.szd.si/index.php/ZdravVest/article/view/1554folic acid, MTHFR polymorphisms, folate metabolism, disease risk, drug interaction |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Maša Vidmar Jasna Grželj Ksenija Gersak Irena Mlinarič-Raščan |
spellingShingle |
Maša Vidmar Jasna Grželj Ksenija Gersak Irena Mlinarič-Raščan Decreased enzymatic activity of 5,10-methylene tetrahydrofolate reductase affects the development of several diseases Zdravniški Vestnik folic acid, MTHFR polymorphisms, folate metabolism, disease risk, drug interaction |
author_facet |
Maša Vidmar Jasna Grželj Ksenija Gersak Irena Mlinarič-Raščan |
author_sort |
Maša Vidmar |
title |
Decreased enzymatic activity of 5,10-methylene tetrahydrofolate reductase affects the development of several diseases |
title_short |
Decreased enzymatic activity of 5,10-methylene tetrahydrofolate reductase affects the development of several diseases |
title_full |
Decreased enzymatic activity of 5,10-methylene tetrahydrofolate reductase affects the development of several diseases |
title_fullStr |
Decreased enzymatic activity of 5,10-methylene tetrahydrofolate reductase affects the development of several diseases |
title_full_unstemmed |
Decreased enzymatic activity of 5,10-methylene tetrahydrofolate reductase affects the development of several diseases |
title_sort |
decreased enzymatic activity of 5,10-methylene tetrahydrofolate reductase affects the development of several diseases |
publisher |
Slovenian Medical Association |
series |
Zdravniški Vestnik |
issn |
1318-0347 1581-0224 |
publishDate |
2016-07-01 |
description |
<p>The importance of folates in human physiology is well known, as are various pathologies associated with low folate status. Folate deficiency can occur due to low dietary intake, genetic predisposition or treatment with medicines affecting the folate status. The aim of this paper is to explore the importance of determining genetic polymorphisms which influence the levels of biologically active folate. MTHFR is involved in the transformation of 5,10-methylene-THF to 5-methyl-THF. Polymorphisms of the MTHRF gene are associated with decreased enzymatic activity.</p><p>Only 9.3 % of the population in Slovenia displays full activity of the MTHFR enzyme; these subjects are non-mutated homozygotes (wild-type alleles). In contrast, the average enzymatic activity in subjects with mutated alleles is between 50 and 60 %. MTHFR polymorphism is associated with an increased risk of hyperhomocysteinemia and cardiovascular diseases, neurological disorders and various types of cancer. There is also an increased risk for congenital malformations. Folic acid food fortification was introduced in some countries in order to assure an adequate folate status in the population. However, this approach does not address the decreased activity of MTHFR.</p><p>Polymorphism in the key enzymes of the folate cycle is common. Determination of the genetic predisposition is therefore plausible in the most vulnerable groups of the population, such as pregnant women and patients receiving medicines influencing the folate cycle in various ways, e.g. 5-fluorouracil, methotrexate and 6-mercaptopurine. Genotyping would allow the identification of patients at high risk for suboptimal folate status.</p> |
topic |
folic acid, MTHFR polymorphisms, folate metabolism, disease risk, drug interaction |
url |
http://vestnik.szd.si/index.php/ZdravVest/article/view/1554 |
work_keys_str_mv |
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