What type of study is this?

This is a Quantitative Study study.

September 20, 2025

Increased methylation levels of the MTHFR gene promoter in Down syndrome

Puntos clave

Individuals with Down syndrome showed significantly higher MTHFR methylation levels compared to controls.
MTHFR 677TT carriers had increased methylation levels compared to 677CC carriers.
No significant difference in methylation levels between Down syndrome individuals with and without congenital heart defects was found.
The study involved 118 participants: 59 with Down syndrome and 59 matched controls, highlighting the importance of genetic analysis.

Resumen

MTHFR is a key enzyme in the one-carbon metabolic pathway, whose activity has been implicated in Down syndrome (DS) and in the development of congenital heart defects (CHDs). The main aim was to assess promoter methylation levels of the MTHFR gene in DS individuals, including those with congenital heart defects (DS-CHD+), and those without (DS-CHD-), as well as control subjects. We also investigated if common MTHFR polymorphisms, namely 677C > T and 1298A > C correlate with MTHFR promoter methylation levels. The study included 118 participants: 59 individuals with DS, 25 of which with CHD, and 59 age and gender matched controls. Genomic DNA was extracted from peripheral blood. Methylation-sensitive high-resolution melting and PCR - RFLP were used to assess methylation and genotyping. DS individuals showed significantly higher MTHFR methylation levels than controls (p T polymorphism.

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