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Homocysteine concentrations and molecular analysis in patients with congenital heart defects
Luciano C Galdieri1, Santiago R Arrieta, Célia M C Silva
1Department of Pediatrics, Universidade Federal de São Paulo UNIFESP/EPM, São Paulo, Brazil. luciano_galdieri@yahoo.com
Insights
High homocysteine levels do not appear linked to congenital heart defects in patients or controls. However, maternal homocysteine concentration was associated with specific gene mutations.
Area of Science:
- Cardiovascular Genetics
- Nutritional Biochemistry
Background:
- Congenital heart defects (CHDs) arise from incomplete cardiac development.
- Elevated homocysteine levels have been implicated in various diseases.
Purpose of the Study:
- To investigate the association between homocysteine, folic acid, and vitamin B12 levels and specific gene mutations in patients with CHDs.
- To explore potential correlations in both patients and their mothers.
Main Methods:
- Assessed homocysteine, folic acid, and vitamin B12 concentrations in 58 CHD patients and 38 controls.
- Genotyped MTHFR, CBS, and MTR genes for common mutations.
- Analyzed maternal nutrient levels and genetic variations.
Main Results:
- No significant differences in homocysteine, folic acid, or vitamin B12 were observed between CHD patients and controls.
- Maternal folic acid levels were significantly higher in the patient group.
- No association was found between individual gene mutations and CHDs, but maternal homocysteine was linked to multiple mutated alleles.
Conclusions:
- Homocysteine, folic acid, and vitamin B12 levels, as well as specific gene mutations, do not appear to be directly correlated with CHDs in the studied population.
- Elevated maternal homocysteine concentration is associated with the presence of three or four mutated alleles in the studied genes.
Background:
Congenital heart defects are the result of incomplete heart development and, like many diseases, have been associated with high homocysteine concentration.
Methods:
We evaluated homocysteine, folic acid and vitamin B(12) concentrations, and the mutations 677C>T and 1298A>C in MTHFR, 844ins68 in CBS and 2756A>G in MTR genes in 58 patients with congenital heart defects, 38 control subjects, and mothers of 49 patients and 26 controls.
Results:
Control and patients presented normal range concentrations for homocysteine (7.66 +/- 3.16 microM and 6.95 +/- 3.12 microM, respectively), folic acid (8.31 +/- 3.00 ng/mL and 11.84 +/- 10.74 ng/mL) and vitamin B(12,) (613.56 +/- 307.57 pg/mL and 623.37 +/- 303.12 pg/mL), which did not differ among groups. For the mothers studied, homocysteine and vitamin B(12) concentrations also did not differ between groups. However, folic acid concentrations of mothers showed significant difference, the highest values being in the group of patients. No difference was found in allele frequencies among all groups studied.
Conclusions:
In the studied groups, high homocysteine seems not to be correlated with congenital heart defects, as well as folic acid and vitamin B(12). The mutations studied, in isolation, were not related to congenital heart defects, but high concentration of maternal homocysteine is associated with the presence of three or four mutated alleles.
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