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Article

Increased methylation levels of the MTHFR gene promoter in Down syndrome.

Epigenomics - 1 Nov 2025

Majstorović Dijana, Stoccoro Andrea, Barišić Anita, Buretić Tomljanović Alena, Giangreco Marianna, Nicolì Vanessa, Coppedè Fabio, Vraneković Jadranka

Abstract excerpt

AIMS: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40970430
DOI: 10.1080/17501911.2025.2563501
PMCID: PMC12562786

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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