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Fig. 1 | Clinical Epigenetics

Fig. 1

From: Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

Fig. 1

The one-carbon pathway responsible for the conversion of dietary folate to methyl donor groups. The critical enzymes in the pathway examined in this study are shown in bold. MTHFR is primarily responsible for the conversion of tetrahydrofolate to methylene-tetrahydrofolate. MTRR and MTR work together to catalyse the conversion of homocysteine to methionine in the presence of the cofactor vitamin B12 and zinc, enabling the movement of the methyl group from methylene-tetrahydrofolate and recycling of tetrahydrofolate. CBS converts homocysteine in the presence of vitamin B6 to cystathione and MAT1A is responsible for converting methionine to S-adenosy-methionine (SAM), the ultimate methyl donor for DNA via catalysis by DNA methyltransferase

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