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Maria Pufulete


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Personal profile

Research interests

Colorectal cancer is the second most common cancer in the UK, placing a high burden on healthcare resources. Nutritional and genetic factors are known to influence risk of developing the disease. Our work focuses on the role of the vitamin folic acid (folate) and common genetic mutations in enzymes that utilise folic acid (e.g. 5,10-methylenetetrahydrofolate reductase: MTHFR 677C-T) in determining colorectal cancer risk. We are currently investigating this relationship in individuals with and without colorectal neoplasia by using intermediary biomarkers of cancer risk such as DNA methylation and uracil misincorporation in DNA. These markers of DNA damage can influence the expression of genes involved in the cancer process and have been linked to low intakes of dietary folate in both animal and human studies.

 Our previous work has shown a relationship between markers of folate status and genomic DNA methylation in the colon. A decrease in genomic DNA methylation in the colon was associated with lower serum and red cell folate and higher plasma homocysteine concentrations. We have also shown that supplementation with physiological intakes of folic acid can increase DNA methylation in the colon of individuals with colorectal neoplasms. We have extended this work to include analysis of gene-specific methylation, which is more important in the cancer process than genomic DNA methylation because it directly influences gene expression. Preliminary investigations in a panel of genes (including ER, MLH1, MGMT, MYOD1) have shown promising results. We have also investigated the role of folate in altering gene 

We are currently working on a project to determine whether individuals carrying the MTHFR 677C-T mutation have different patterns of DNA methylation and uracil misincorporation in the colon compared with those who do not carry the mutation. An intervention study will also be carried out to determine whether increasing folic acid intakes can alter markers of DNA damage in the colon and whether this response differs between individuals who carry the MTHFR 677C-T mutation and those who do not. An important aspect of our work is that we are recruiting subjects without colorectal neoplasia to participate in these studies and therefore investigating the relationship between diet and markers of damage before the disease develops.

Research interests (short)

Relationship of DNA hypomethylation to folate and vitamin B12 status and risk of colorectal cancer.

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being


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