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Understanding the role of MTHFD1L in mitochondrial folate metabolism and human

Dublin City University


Brief of Description of Project

Understanding the role of MTHFD1L in mitochondrial folate metabolism and human

Folate status is important for human health with suboptimal status associated with a range of diseases.  An understanding of how folate status influences disease risk is gained by focusing on specific genes that participate in the transport and metabolism of folate.    The folate gene, MTHFD1L,  has recently emerged as a risk factor for a range of diseases including neural tube defects, cardiovascular disease and cancer. MTHFD1L is a folate enzyme that localises to the mitochondria but further elucidation of this enzyme is warranted to fully understand its role in disease risk. This project will use a number of molecular approaches to further investigate this enzyme, building on current research from the group.

Priority Areas

Principal Investigators

Research Groups

  • Centre for Preventive Medicine (CPM)
    The Nutritional Genomics Group at DCU focuses on understanding the interaction between nutrition (folate specifically), genomics and human disease. Current projects in the group focus on: 1. Further investigation of the newly identified human folate gene, DHFRL1, in relation to its function and role in disease. DHFRL1 was recently discovered by the Parle-McDermott lab and published in PNAS 108(37): 15157-62 (2011). 2. The impact of folic acid intervention on DNA methylation and gene expression patterns. 3. Investigation of the role of the MTHFD1L gene in human disease. 4. Further investigation of novel folate responsive genes and their potential role in health and disease.