The methylenetetrahydrofolate reductase C677T polymorphism and therisk of congenital heart diseases: a literature review

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Abstract

Congenital Heart Diseases (CHDs) are the most commonand serious developmental anomaly and the leading non-infectiouscause of mortality in the first year of life. Despite the advances in diagnosis and treatment, understanding of the developmental causes and aetiologies of CHDs has been limited. The hyperhomocysteinemia is one of the proved risk factors related to the occurrence of CHDs. The connection between cardiac defects, folate and hyperhomocysteinemia could be explained by a mutation in the methylenetetrahydrofolate reductase (MTHFR) gene. Indeed, the C677T MTHFR mutation produces a thermolabile variant of MTHFR with reduced enzymatic action resulting in higher plasma levels of homocysteine, especially in individuals with low – folate levels. Studies regarding MTHFR C677T polymorphism in relation to CHDs have yielded conflicting conclusions. Our aim is to perform a literature review about the suspected interrelation between MTHFR C677T mutation and the risk of congenital heart diseases. Furthermore, considering that exist populations with a higher prevalence of these type of mutation, we have started a multicentre case-control study in order to further elucidate this topic.
Lingua originaleEnglish
pagine (da-a)398-404
Numero di pagine7
RivistaGiornale Italiano di Ostetricia e Ginecologia
VolumeXXXVI
Stato di pubblicazionePublished - 2014

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Methylenetetrahydrofolate Reductase (NADPH2)
Heart Diseases
Hyperhomocysteinemia
Mutation
Folic Acid
Homocysteine
Case-Control Studies
Mortality
Population
Genes

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology

Cita questo

@article{925edda621e044eeb1c526080ab78387,
title = "The methylenetetrahydrofolate reductase C677T polymorphism and therisk of congenital heart diseases: a literature review",
abstract = "Congenital Heart Diseases (CHDs) are the most commonand serious developmental anomaly and the leading non-infectiouscause of mortality in the first year of life. Despite the advances in diagnosis and treatment, understanding of the developmental causes and aetiologies of CHDs has been limited. The hyperhomocysteinemia is one of the proved risk factors related to the occurrence of CHDs. The connection between cardiac defects, folate and hyperhomocysteinemia could be explained by a mutation in the methylenetetrahydrofolate reductase (MTHFR) gene. Indeed, the C677T MTHFR mutation produces a thermolabile variant of MTHFR with reduced enzymatic action resulting in higher plasma levels of homocysteine, especially in individuals with low – folate levels. Studies regarding MTHFR C677T polymorphism in relation to CHDs have yielded conflicting conclusions. Our aim is to perform a literature review about the suspected interrelation between MTHFR C677T mutation and the risk of congenital heart diseases. Furthermore, considering that exist populations with a higher prevalence of these type of mutation, we have started a multicentre case-control study in order to further elucidate this topic.",
author = "Gloria Calagna and Antonino Perino and Alessandra Vassiliadis and Renato Venezia and Fabio Fiorino and Bertolino and Alessandro Svelato",
year = "2014",
language = "English",
volume = "XXXVI",
pages = "398--404",
journal = "Giornale Italiano di Ostetricia e Ginecologia",
issn = "0391-9013",
publisher = "CIC Edizioni Internazionali s.r.l.",

}

TY - JOUR

T1 - The methylenetetrahydrofolate reductase C677T polymorphism and therisk of congenital heart diseases: a literature review

AU - Calagna, Gloria

AU - Perino, Antonino

AU - Vassiliadis, Alessandra

AU - Venezia, Renato

AU - Fiorino, Fabio

AU - Bertolino, null

AU - Svelato, Alessandro

PY - 2014

Y1 - 2014

N2 - Congenital Heart Diseases (CHDs) are the most commonand serious developmental anomaly and the leading non-infectiouscause of mortality in the first year of life. Despite the advances in diagnosis and treatment, understanding of the developmental causes and aetiologies of CHDs has been limited. The hyperhomocysteinemia is one of the proved risk factors related to the occurrence of CHDs. The connection between cardiac defects, folate and hyperhomocysteinemia could be explained by a mutation in the methylenetetrahydrofolate reductase (MTHFR) gene. Indeed, the C677T MTHFR mutation produces a thermolabile variant of MTHFR with reduced enzymatic action resulting in higher plasma levels of homocysteine, especially in individuals with low – folate levels. Studies regarding MTHFR C677T polymorphism in relation to CHDs have yielded conflicting conclusions. Our aim is to perform a literature review about the suspected interrelation between MTHFR C677T mutation and the risk of congenital heart diseases. Furthermore, considering that exist populations with a higher prevalence of these type of mutation, we have started a multicentre case-control study in order to further elucidate this topic.

AB - Congenital Heart Diseases (CHDs) are the most commonand serious developmental anomaly and the leading non-infectiouscause of mortality in the first year of life. Despite the advances in diagnosis and treatment, understanding of the developmental causes and aetiologies of CHDs has been limited. The hyperhomocysteinemia is one of the proved risk factors related to the occurrence of CHDs. The connection between cardiac defects, folate and hyperhomocysteinemia could be explained by a mutation in the methylenetetrahydrofolate reductase (MTHFR) gene. Indeed, the C677T MTHFR mutation produces a thermolabile variant of MTHFR with reduced enzymatic action resulting in higher plasma levels of homocysteine, especially in individuals with low – folate levels. Studies regarding MTHFR C677T polymorphism in relation to CHDs have yielded conflicting conclusions. Our aim is to perform a literature review about the suspected interrelation between MTHFR C677T mutation and the risk of congenital heart diseases. Furthermore, considering that exist populations with a higher prevalence of these type of mutation, we have started a multicentre case-control study in order to further elucidate this topic.

UR - http://hdl.handle.net/10447/98014

M3 - Article

VL - XXXVI

SP - 398

EP - 404

JO - Giornale Italiano di Ostetricia e Ginecologia

JF - Giornale Italiano di Ostetricia e Ginecologia

SN - 0391-9013

ER -