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Methylenetetrahydrofolate Reductase (MTHFR) polymorphisms as a risk factor for Turner Syndrome


Impairments in folate and methyl metabolism can result in DNA hypomethylation and abnormal chromosome segregation and folate deficiency has been associated with 17 and 21 aneuploidy in human lymphocytes. Methylenetetrahydrofolate Reductase (MTHFR) plays a crucial role in regulating cellular methylation. Studies have shown that global DNA hypomethylation, a marker of folic acid depletion, may induce chromosome loss that leads to aneyploidy. Two common polymorphisms have been described which reduce MTHFR activity: the T variant at nucleotide 677 (MTHFR 677C>T) and the C variant at the nucleotide 1298 (MTHFR 1298A>C). According to Santos et al (2006) Turner syndrome could be a model to the investigation of MTHFR gene polymorphism associated to somatic chromosomal non-disjunction due to high frequency of chromosome mosaicism in Turner patients. The authors studied 49 Turner syndrome patients and 200 controls and they found a high frequency of the genotype 677C>T, concluding that in homozygous this mutation could have a somatic effect in chromosomal non-disjunction by the depletion of MTHFR activity in Turner patients. The aim of this study is analyzing the MTHFR gene polymorphism in Turner syndrome patients and to correlate the findings to the mechanism of somatic chromosomal non disjunction. (AU)

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(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
DE OLIVEIRA, KELLY CRISTINA; BIANCO, BIANCA BORSATTO; VERRESCHI, IEDA T. N.; GUEDES, ALEXTS DOURADO; GALERA, BIANCA BORSATO; GALERA, MARCIAL FRANCIS; BARBOSA, CALO P.; NUNES LIPAY, MONICA VANNUCCI. Prevalence of the Polymorphism MTHFR A1298C and not MTHFR C677T Is Related to Chromosomal Aneuploidy in Brazilian Turner Syndrome Patients. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 52, n. 8, p. 1374-1381, NOV 2008. Web of Science Citations: 18.

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